Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).
An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9.
An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is clinically similar but histologically distinguishable. Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma (KERATODERMA, PALMOPLANTAR), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present.
A type II keratin found predominantly expressed in the terminally differentiated EPIDERMIS of palms and soles. Mutations in the gene for keratin 9 are associated with KERATODERMA, PALMOPLANTAR, EPIDERMOLYTIC.
Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails.
A type II keratin that is found associated with the KERATIN-10 in terminally differentiated epidermal cells such as those that form the stratum corneum. Mutations in the genes that encode keratin-1 have been associated with HYPERKERATOSIS, EPIDERMOLYTIC.
Skin diseases of the foot, general or unspecified.
Diseases affecting the orderly growth and persistence of hair.
A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.
Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.
A type I keratin expressed in a variety of EPITHELIUM, including the ESOPHAGUS, the TONGUE, the HAIR FOLLICLE and NAILS. Keratin-16 is normally found associated with KERATIN-6. Mutations in the gene for keratin-6 have been associated with PACHYONYCHIA CONGENITA, TYPE 1.
Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.
Persistence of the nuclei of the keratinocytes into the stratum corneum of the skin. This is a normal state only in the epithelium of true mucous membranes in the mouth and vagina. (Dorland, 27th ed)
Desmoplakins are cytoskeletal linker proteins that anchor INTERMEDIATE FILAMENTS to the PLASMA MEMBRANE at DESMOSOMES.
Hand dermatoses is a general term referring to various inflammatory skin conditions primarily affecting the hands, such as eczema, psoriasis, and contact dermatitis, characterized by erythema, scaling, vesiculation, fissuring, or lichenification.
Agents that soften, separate, and cause desquamation of the cornified epithelium or horny layer of skin. They are used to expose mycelia of infecting fungi or to treat corns, warts, and certain other skin diseases.
A desmosomal cadherin that is an autoantigen in the acquired skin disorder PEMPHIGUS FOLIACEUS.
A type II keratin found associated with KERATIN-16 or KERATIN-17 in rapidly proliferating squamous epithelial tissue. Mutations in gene for keratin-6A and keratin-6B have been associated with PACHYONYCHIA CONGENITA, TYPE 1 and PACHYONYCHIA CONGENITA, TYPE 2 respectively.
A type I keratin found associated with KERATIN-6 in rapidly proliferating squamous epithelial tissue. Mutations in the gene for keratin-17 have been associated with PACHYONYCHIA CONGENITA, TYPE 2.
A papain-like cysteine protease that has specificity for amino terminal dipeptides. The enzyme plays a role in the activation of several pro-inflammatory serine proteases by removal of their aminoterminal inhibitory dipeptides. Genetic mutations that cause loss of cathepsin C activity in humans are associated with PAPILLON-LEFEVRE DISEASE.
Any horny growth such as a wart or callus.
Various mixtures of fats, waxes, animal and plant oils and solid and liquid hydrocarbons; vehicles for medicinal substances intended for external application; there are four classes: hydrocarbon base, absorption base, water-removable base and water-soluble base; several are also emollients.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
A colloidal system of semisolid hydrocarbons obtained from PETROLEUM. It is used as an ointment base, topical protectant, and lubricant.
An articulation where the costal cartilage of each rib fit with slight concavities along the lateral borders of the STERNUM.
A general term for the complete loss of the ability to hear from both ears.
A class of fibrous proteins or scleroproteins that represents the principal constituent of EPIDERMIS; HAIR; NAILS; horny tissues, and the organic matrix of tooth ENAMEL. Two major conformational groups have been characterized, alpha-keratin, whose peptide backbone forms a coiled-coil alpha helical structure consisting of TYPE I KERATIN and a TYPE II KERATIN, and beta-keratin, whose backbone forms a zigzag or pleated sheet structure. alpha-Keratins have been classified into at least 20 subtypes. In addition multiple isoforms of subtypes have been found which may be due to GENE DUPLICATION.
Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.
A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.
The external, nonvascular layer of the skin. It is made up, from within outward, of five layers of EPITHELIUM: (1) basal layer (stratum basale epidermidis); (2) spinous layer (stratum spinosum epidermidis); (3) granular layer (stratum granulosum epidermidis); (4) clear layer (stratum lucidum epidermidis); and (5) horny layer (stratum corneum epidermidis).
A characteristic symptom complex.
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
A type of junction that attaches one cell to its neighbor. One of a number of differentiated regions which occur, for example, where the cytoplasmic membranes of adjacent epithelial cells are closely apposed. It consists of a circular region of each membrane together with associated intracellular microfilaments and an intercellular material which may include, for example, mucopolysaccharides. (From Glick, Glossary of Biochemistry and Molecular Biology, 1990; Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
'Skin diseases' is a broad term for various conditions affecting the skin, including inflammatory disorders, infections, benign and malignant tumors, congenital abnormalities, and degenerative diseases, which can cause symptoms such as rashes, discoloration, eruptions, lesions, itching, or pain.
A group of homologous proteins which form the intermembrane channels of GAP JUNCTIONS. The connexins are the products of an identified gene family which has both highly conserved and highly divergent regions. The variety contributes to the wide range of functional properties of gap junctions.
A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the RIGHT VENTRICLE wall and loss of myocardial cells. Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias.
Inflammation of the bone.
An oral retinoid effective in the treatment of psoriasis. It is the major metabolite of ETRETINATE with the advantage of a much shorter half-life when compared with etretinate.
Excessive sweating. In the localized type, the most frequent sites are the palms, soles, axillae, inguinal folds, and the perineal area. Its chief cause is thought to be emotional. Generalized hyperhidrosis may be induced by a hot, humid environment, by fever, or by vigorous exercise.
A double gliding joint formed by the CLAVICLE, superior and lateral parts of the manubrium sterni at the clavicular notch, and the cartilage of the first rib.
Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Biochemical identification of mutational changes in a nucleotide sequence.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Drugs used to treat or prevent skin disorders or for the routine care of skin.
The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.
Any purulent skin disease (Dorland, 27th ed).
Diseases of the nail plate and tissues surrounding it. The concept is limited to primates.
The distal extremity of the leg in vertebrates, consisting of the tarsus (ANKLE); METATARSUS; phalanges; and the soft tissues surrounding these bones.
A mild exanthematous inflammation of unknown etiology. It is characterized by the presence of salmon-colored maculopapular lesions. The most striking feature is the arrangement of the lesions such that the long axis is parallel to the lines of cleavage. The eruptions are usually generalized, affecting chiefly the trunk, and the course is often self-limiting.

Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus. (1/7)

The locus for a syndrome of focal palmoplantar keratoderma (Tylosis) associated with squamous cell oesophageal cancer (TOC) has been mapped to chromosome 17q25, a region frequently deleted in sporadic squamous cell oesophageal tumours. Further haplotype analysis described here, based on revised maps of marker order, has reduced the TOC minimal region to a genetic interval of 2 cM limited by the microsatellite markers D17S785 and D17S751. Partial sequence data and complete physical maps estimate the actual size of this region to be only 0.5 Mb. This analysis allowed the exclusion of proposed candidate tumour suppressor genes including MLL septin-like fusion (MSF), survivin, and deleted in multiple human cancer (DMC1). Computer analysis of sequence data from the minimal region identified 13 candidate genes and the presence of 50-70 other 'gene fragments' as ESTs and/or predicted exons and genes. Ten of the characterized genes were assayed for mutations but no disease-specific alterations were identified in the coding and promoter sequences. This region of chromosome 17q25 is, therefore, relatively gene-rich, containing 13 known and possibly as many as 50 predicted genes. Further mutation analysis of these predicted genes, and others possibly residing in the region, is required in order to identify the elusive TOC locus.  (+info)

A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. (2/7)

Keratin gene mutations affecting nonhelical head and tail domains are not usually associated with prominent skin blistering and keratin filament clumping. Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate erythema (frameshift mutation c1649delG in the V2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin (different frameshift mutations in the V2 domain of keratin 1 (K1)). We have studied a family with severe, diffuse, nonepidermolytic PPK and verrucous hyperkeratotic plaques over the joints and in flexures and identified a new KRT1 gene mutation that is predicted to completely alter the K1 tail domain. In addition, a new K1 size polymorphism has been detected, which is especially prevalent among the African-American population. These results further emphasize the functional importance of the nonhelical tail domain in keratin molecules despite the obvious variability in the number of glycine loop motifs and underscore the broad phenotypic spectrum of disorders due to dominant keratin tail mutations.  (+info)

Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression. (3/7)

Tylosis (focal non-epidermolytic palmoplantar keratoderma) is an autosomal dominant skin disorder that is associated with the early onset of squamous cell oesophageal cancer (SCOC) in three families. Our previous linkage and haplotype analyses have mapped the tylosis with oesophageal cancer (TOC) locus to a 42.5 kb region on chromosome 17q25 that has also been implicated in the aetiology of sporadically occurring SCOC from a number of different geographical populations. Oesophageal cancer is one of the 10 leading causes of cancer mortality worldwide. No inherited disease-causing mutations have been identified in the genes located in the 42.5 kb minimal region. We now show that cytoglobin gene expression in oesophageal biopsies from tylotic patients is dramatically reduced by approximately 70% compared with normal oesophagus. Furthermore, both alleles are equally repressed. Given the autosomal dominant nature of the disease, these results exclude haploinsufficiency as a mechanism of the disease and instead suggest a novel trans-allele interaction. We also show that the promoter is hypermethylated in sporadic oesophageal cancer samples: this may constitute the 'second hit' of a gene previously implicated in this disease by allelic imbalance studies.  (+info)

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. (4/7)

 (+info)

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. (5/7)

 (+info)

Human papillomavirus in squamous cell carcinoma of the oesophagus associated with tylosis. (6/7)

Human papillomavirus (HPV) may have a pathogenic role in squamous cell carcinoma of the oesophagus. Tylosis, an inherited thickening of the skin of the palms and soles, was associated with a high risk of developing squamous cell carcinoma of the oesophagus among members of a large family in Liverpool. The resected carcinomas of the oesophagus was examined from four such patients with DNA probes to HPV types 6,11,16,18,31,33 and 35 using in situ hybridisation under conditions of high stringency. No reaction was detected. The oesophageal biopsy specimens from 10 tylotic subjects without carcinoma were also examined. No HPV DNA was detected. It is concluded that there is no evidence that HPV infection has a role in the development of squamous cell carcinoma of the oesophagus in tylosis.  (+info)

Loss of heterozygosity in sporadic oesophageal tumors in the tylosis oesophageal cancer (TOC) gene region of chromosome 17q. (7/7)

From the genotyping of UK and US tylotic families with a high risk of oesophageal cancer we have previously localized the tylosis-associated cancer susceptibility gene (TOC gene, tylosis oesophageal cancer gene) to a 1 cM region on the long arm of chromosome 17 (Kelsell et al., 1996). In the present study we investigated loss of heterozygosity (LOH) patterns of 35 sporadic squamous cell carcinomas of the oesophagus using six polymorphic microsatellite markers encompassing this locus. Twenty-four of the 35 cases (69%) revealed LOH at one or more loci. Deletion was most frequently observed with the marker D17S801 (64% LOH, informative cases), which shows significant linkage to the TOC locus. The LOH analysis in sporadic oesophageal cancer we report here is thus consistent with the hypothesis that the tylosis oesophageal cancer susceptibility gene is also involved in the pathogenesis of a proportion of sporadic squamous cell carcinomas of the oesophagus.  (+info)

Keratoderma, palmoplantar is a medical term that refers to a group of skin conditions characterized by thickening and hardening (hyperkeratosis) of the skin on the palms of the hands and soles of the feet. This condition can affect people of all ages, but it's most commonly seen in children.

The thickening of the skin is caused by an overproduction of keratin, a protein that helps to form the tough, outer layer of the skin. In palmoplantar keratoderma, this excess keratin accumulates in the stratum corneum, the outermost layer of the epidermis, leading to the formation of rough, scaly, and thickened patches on the palms and soles.

There are several different types of palmoplantar keratoderma, each with its own specific symptoms and causes. Some forms of the condition are inherited and present at birth or develop in early childhood, while others may be acquired later in life as a result of an underlying medical condition, such as atopic dermatitis, lichen planus, or psoriasis.

Treatment for palmoplantar keratoderma typically involves the use of emollients and keratolytic agents to help soften and remove the thickened skin. In some cases, oral retinoids or other systemic medications may be necessary to manage more severe symptoms. It's important to consult with a healthcare provider for an accurate diagnosis and treatment plan.

Epidermolytic palmoplantar keratoderma is a rare genetic skin disorder that affects the palms and soles of the feet. It is characterized by thickening and scaling of the skin in these areas due to abnormal keratinization, which is the process of skin cell formation and shedding.

The term "epidermolytic" refers to the specific type of keratoderma that is caused by mutations in genes encoding for proteins involved in keratin filament assembly. These mutations lead to the formation of clumps of keratin protein, which disrupts the normal structure and function of the skin cells.

The symptoms of epidermolytic palmoplantar keratoderma typically appear in infancy or early childhood and may include:

* Thick, scaly, and fissured skin on the palms and soles
* Blistering and erosions of the affected areas
* Pain, itching, and difficulty walking or using the hands
* Increased susceptibility to infections

The condition is usually inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the mutated gene from an affected parent. However, de novo mutations can also occur.

Treatment for epidermolytic palmoplantar keratoderma is primarily focused on managing symptoms and preventing complications. This may include:

* Emollients and moisturizers to keep the skin hydrated
* Topical keratolytics, such as salicylic acid or urea, to help exfoliate the thickened skin
* Protective padding or footwear to prevent blistering and injury
* Antibiotics to treat secondary infections

In severe cases, systemic retinoids or other medications may be used to reduce the severity of the symptoms. However, these treatments can have significant side effects and should be used with caution.

Palmoplantar diffuse keratoderma is a medical term used to describe a group of skin conditions that are characterized by thickening and roughness of the skin on the palms of the hands and soles of the feet (palmoplantar). This condition can affect both sides of the body (diffuse) and can vary in severity.

The thickening of the skin is caused by an overproduction of keratin, a protein that makes up the outer layer of the skin. The exact cause of palmoplantar diffuse keratoderma is not fully understood, but it can be associated with inherited genetic disorders, skin conditions such as eczema or psoriasis, exposure to certain chemicals, and chronic trauma or friction to the affected areas.

Symptoms of palmoplantar diffuse keratoderma may include:

* Thickening and roughness of the skin on the palms and soles
* Redness and inflammation
* Cracking and fissuring of the skin
* Pain or discomfort in the affected areas
* Difficulty with fine motor skills due to thickened skin on the fingers

Treatment for palmoplantar diffuse keratoderma may include emollients, keratolytic agents, and topical corticosteroids. In some cases, oral medications or phototherapy may be necessary. It is important to seek medical advice from a dermatologist or other healthcare professional if you are experiencing symptoms of this condition.

Keratin-9 is not a well-known or widely studied type of keratin. According to available scientific literature, it is one of the many types of keratins that are expressed in certain tissues, such as the nails and hair. However, there is limited information available specifically about Keratin-9's medical definition, structure, or function.

Keratins are a family of fibrous proteins that provide structural support to epithelial cells, which line the outer surfaces of organs and blood vessels, as well as the inner surfaces of various body structures, such as the respiratory and digestive tracts. They are essential for maintaining the integrity and resilience of these tissues, particularly in areas exposed to mechanical stress or environmental damage.

In summary, while Keratin-9 is a recognized member of the keratin family, there is limited information available about its specific medical definition or role.

Medical definitions of "malformed nails" may vary, but generally, it refers to a condition where the nails are abnormally formed or shaped. This can include various deformities such as:

1. Koilonychia: Also known as "spoon nails," where the nails appear scooped out and concave.
2. Pterygium: A condition where skin grows over the nail, causing it to adhere to the finger.
3. Onychogryphosis: Also known as "ram's horn nails," where the nails become thick, curved, and overgrown.
4. Brachyonychia: Shortened nails that do not grow normally.
5. Onychauxis: Thickening of the nails.
6. Leukonychia: White spots or lines on the nails.
7. Beau's lines: Indentations across the nails, often caused by a previous illness or injury.
8. Pitting: Small depressions or holes in the nails.
9. Cracking or splitting of the nails.

These nail abnormalities can be caused by various factors such as genetics, fungal infections, trauma, nutritional deficiencies, and underlying medical conditions.

Keratin-1 is a type of keratin protein that is primarily expressed in the differentiated cells of epithelial tissues, such as the hair follicles and the outermost layer of the skin (epidermis). It is a structural protein that provides strength and rigidity to these cells. In the hair follicle, keratin-1 is found in the cortex of the hair shaft where it contributes to the hair's overall structure and stability. It is also a key component of the outermost layer of the skin (stratum corneum) where it helps to form a protective barrier against external stressors such as chemicals, microorganisms, and physical damage.

Foot dermatoses refer to various skin conditions that affect the feet. These can include inflammatory conditions like eczema and psoriasis, infectious diseases such as athlete's foot (tinea pedis), fungal infections, bacterial infections, viral infections (like plantar warts caused by HPV), and autoimmune blistering disorders. Additionally, contact dermatitis from irritants or allergens can also affect the feet. Proper diagnosis is essential to determine the best course of treatment for each specific condition.

Hair diseases is a broad term that refers to various medical conditions affecting the hair shaft, follicle, or scalp. These conditions can be categorized into several types, including:

1. Hair shaft abnormalities: These are conditions that affect the structure and growth of the hair shaft. Examples include trichorrhexis nodosa, where the hair becomes weak and breaks easily, and pili torti, where the hair shaft is twisted and appears sparse and fragile.
2. Hair follicle disorders: These are conditions that affect the hair follicles, leading to hair loss or abnormal growth patterns. Examples include alopecia areata, an autoimmune disorder that causes patchy hair loss, and androgenetic alopecia, a genetic condition that leads to pattern baldness in both men and women.
3. Scalp disorders: These are conditions that affect the scalp, leading to symptoms such as itching, redness, scaling, or pain. Examples include seborrheic dermatitis, psoriasis, and tinea capitis (ringworm of the scalp).
4. Hair cycle abnormalities: These are conditions that affect the normal growth cycle of the hair, leading to excessive shedding or thinning. Examples include telogen effluvium, where a large number of hairs enter the resting phase and fall out, and anagen effluvium, which is typically caused by chemotherapy or radiation therapy.
5. Infectious diseases: Hair follicles can become infected with various bacteria, viruses, or fungi, leading to conditions such as folliculitis, furunculosis, and kerion.
6. Genetic disorders: Some genetic disorders can affect the hair, such as Menkes syndrome, which is a rare inherited disorder that affects copper metabolism and leads to kinky, sparse, and brittle hair.

Proper diagnosis and treatment of hair diseases require consultation with a healthcare professional, often a dermatologist or a trichologist who specializes in hair and scalp disorders.

Pachyonychia Congenita (PC) is a rare genetic disorder characterized by thickened and abnormally shaped nails, painful blisters on the skin, and thickened palms and soles. The condition is caused by mutations in genes responsible for producing keratin proteins, which are essential components of our skin, hair, and nails.

There are two main types of PC: Type 1 (Jadassohn-Lewandowsky syndrome) and Type 2 (Jackson-Lawler syndrome). Both types have similar symptoms but may vary in severity. The symptoms typically appear at birth or within the first few years of life.

The medical definition of Pachyonychia Congenita includes:

1. Nails: Thickening and overcurvature of the nails, often with a yellow-white discoloration.
2. Skin: Formation of blisters and calluses on pressure points such as hands, feet, knees, and elbows. These blisters can be painful and may lead to secondary infections.
3. Palms and soles: Hyperkeratosis (thickening) of the skin on the palms and soles, causing discomfort or pain while walking or performing manual tasks.
4. Mucous membranes: In some cases, the condition can also affect the mucous membranes, leading to oral lesions and thickened vocal cords.
5. Genetics: PC is an autosomal dominant disorder, meaning that only one copy of the mutated gene inherited from either parent is sufficient to cause the disease. However, some cases may result from spontaneous mutations in the affected individual.

Ichthyosis is a group of skin disorders that are characterized by dry, thickened, scaly skin. The name "ichthyosis" comes from the Greek word "ichthys," which means fish, as the skin can have a fish-like scale appearance. These conditions can be inherited or acquired and vary in severity.

The medical definition of ichthyosis is a heterogeneous group of genetic keratinization disorders that result in dry, thickened, and scaly skin. The condition may affect any part of the body, but it most commonly appears on the extremities, scalp, and trunk. Ichthyosis can also have associated symptoms such as redness, itching, and blistering.

The severity of ichthyosis can range from mild to severe, and some forms of the condition may be life-threatening in infancy. The exact symptoms and their severity depend on the specific type of ichthyosis a person has. Treatment for ichthyosis typically involves moisturizing the skin, avoiding irritants, and using medications to help control scaling and inflammation.

Epidermolytic hyperkeratosis (EH) is a rare genetic skin disorder characterized by the abnormal growth and accumulation of keratin, a protein found in the outermost layer of the skin (epidermis). This condition results in widespread blistering and peeling of the skin, particularly in areas prone to friction such as the hands, feet, knees, and elbows.

EH is caused by mutations in the KRT1 or KRT10 genes, which provide instructions for making keratin proteins that are essential for maintaining the structure and integrity of the epidermis. When these genes are mutated, the keratin proteins become unstable and form clumps, leading to the formation of blisters and areas of thickened, scaly skin (hyperkeratosis).

EH is typically present at birth or appears in early childhood, and it can range from mild to severe. In addition to the skin symptoms, individuals with EH may also experience nail abnormalities, hair loss, and an increased risk of skin infections. Treatment for EH is focused on managing symptoms and preventing complications, and may include topical creams or ointments, wound care, and protection from friction and injury.

Keratin-16 is a type of keratin protein that is specifically expressed in the suprabasal layers of epithelial tissues, including the skin and nails. It belongs to the family of keratins known as "hard keratins" or "intermediate filament proteins," which provide structural support and protection to these tissues.

Keratin-16 is often upregulated in response to stress, injury, or inflammation, leading to the formation of thickened, hardened epithelial structures. This can result in skin conditions such as calluses, corns, and blisters, as well as nail abnormalities like brittle or ridged nails.

In addition, keratin-16 has been implicated in various disease states, including psoriasis, eczema, and certain types of cancer. Its expression is often used as a marker for epithelial differentiation and tissue remodeling.

Papillon-Lefèvre disease is a rare autosomal recessive genetic disorder that affects the skin and teeth. It is characterized by the early onset of severe periodontitis (inflammation of the tissues surrounding the teeth) leading to premature loss of primary and permanent teeth, and palmoplantar keratosis (thickening and hardening of the palms and soles).

The disease is caused by mutations in the gene for the protein cathepsin C (CTSC), which plays a role in the immune system's response to bacterial infections. The mutation leads to an impaired ability to fight off bacteria that cause periodontal disease, resulting in severe destruction of the periodontal tissues and premature loss of teeth.

The palmoplantar keratosis typically appears during early childhood as rough, scaly patches on the palms and soles, which may be prone to infection and painful fissures. Other skin manifestations may include hyperkeratotic lesions on the knees and elbows.

There is no cure for Papillon-Lefèvre disease, but treatment can help manage its symptoms. Good oral hygiene, regular dental checkups, and periodontal treatments are essential to prevent or slow down the progression of periodontitis. Topical keratolytic agents or systemic retinoids may be used to treat the palmoplantar keratosis.

Parakeratosis is a medical term that refers to a skin condition where the outermost layer of the skin (the stratum corneum) contains nucleated keratinocytes, which are cells that have not fully matured and still contain their nuclei. This is in contrast to normal stratum corneum, which consists of flat, dead keratinocytes without nuclei.

Parakeratosis can occur in various skin disorders, such as psoriasis, eczema, warts, and certain types of dermatitis. It can also be seen in some benign or malignant skin tumors. The presence of parakeratosis may indicate abnormal differentiation or proliferation of the skin cells, which can contribute to the development of skin lesions or diseases.

In addition to its role in skin disorders, parakeratosis has been implicated in the pathogenesis of certain gastrointestinal diseases, such as Barrett's esophagus and colon cancer, where it is associated with abnormal cell growth and increased risk of malignancy.

Desmoplakins are important proteins that play a crucial role in the structural integrity and function of certain types of cell-to-cell junctions called desmosomes. Desmosomes are specialized structures that connect adjacent cells in tissues that undergo significant mechanical stress, such as the skin, heart, and gut.

Desmoplakins are large proteins that are composed of several domains, including a plakin domain, which interacts with other desmosomal components, and a spectrin-like repeat domain, which binds to intermediate filaments. By linking desmosomes to the intermediate filament network, desmoplakins help to provide mechanical strength and stability to tissues.

Mutations in the genes that encode desmoplakins have been associated with several human genetic disorders, including arrhythmogenic right ventricular cardiomyopathy (ARVC), a heart condition characterized by abnormal heart rhythms and structural changes in the heart muscle, and epidermolysis bullosa simplex (EBS), a skin disorder characterized by blistering and fragility of the skin.

Hand dermatoses is a general term used to describe various inflammatory skin conditions that affect the hands. These conditions can cause symptoms such as redness, swelling, itching, blistering, scaling, and cracking of the skin on the hands. Common examples of hand dermatoses include:

1. Irritant contact dermatitis: A reaction that occurs when the skin comes into contact with irritants such as chemicals, soaps, or detergents.
2. Allergic contact dermatitis: A reaction that occurs when the skin comes into contact with allergens, such as nickel, rubber, or poison ivy.
3. Atopic dermatitis (eczema): A chronic skin condition characterized by dry, itchy, and inflamed skin.
4. Psoriasis: A chronic skin condition characterized by red, scaly patches that can occur anywhere on the body, including the hands.
5. Dyshidrotic eczema: A type of eczema that causes small blisters to form on the sides of the fingers, palms, and soles of the feet.
6. Lichen planus: An inflammatory skin condition that can cause purple or white patches to form on the hands and other parts of the body.
7. Scabies: A contagious skin condition caused by mites that burrow into the skin and lay eggs, causing intense itching and a rash.

Treatment for hand dermatoses depends on the specific diagnosis and may include topical creams or ointments, oral medications, phototherapy, or avoidance of triggers.

Keratolytic agents are substances that cause the softening and sloughing off of excess keratin, the protein that makes up the outermost layer of the skin (stratum corneum). These agents help to break down and remove dead skin cells, increase moisture retention, and promote the growth of new skin cells. They are commonly used in the treatment of various dermatological conditions such as psoriasis, eczema, warts, calluses, and ichthyosis. Examples of keratolytic agents include salicylic acid, urea, lactic acid, and retinoic acid.

Desmoglein 1 is a type of desmosomal cadherin, which is a transmembrane protein involved in cell-to-cell adhesion. It is primarily expressed in the upper layers of the epidermis and plays a crucial role in maintaining the integrity and stability of the skin. Desmoglein 1 forms desmosomes, specialized intercellular junctions that connect adjacent keratinocytes and help to resist shearing forces.

Desmoglein 1 is also a target for autoantibodies in certain blistering diseases, such as pemphigus foliaceus, where the binding of these antibodies to desmoglein 1 results in the loss of cell-to-cell adhesion and formation of skin blisters.

Keratin-6 is a specific type of keratin protein that is expressed in the epithelial tissues, including the skin and hair follicles. It is a member of the keratin family of intermediate filament proteins, which provide structural support to cells. There are several subtypes of Keratin-6 (A, B, C, and D), each with distinct functions and expression patterns.

Keratin-6A and -6B are expressed in response to injury or stress in the epithelial tissues, where they play a role in wound healing by promoting cell migration and proliferation. They have also been implicated in the development of certain skin disorders, such as psoriasis and epidermolysis bullosa simplex.

Keratin-6C is primarily expressed in the hair follicles, where it helps to regulate the growth and structure of the hair shaft. Mutations in the gene encoding Keratin-6C have been associated with certain forms of hair loss, such as monilethrix and pili torti.

Keratin-6D is also expressed in the hair follicles, where it plays a role in maintaining the integrity of the hair shaft. Mutations in the gene encoding Keratin-6D have been linked to certain forms of wooly hair and hair loss.

Keratin-1

Cathepsin C is a lysosomal cysteine protease that plays a role in intracellular protein degradation and activation of other proteases. It is also known as dipeptidyl peptidase I (DPP I) because of its ability to remove dipeptides from the N-terminus of polypeptides. Cathepsin C is widely expressed in many tissues, including immune cells, and has been implicated in various physiological and pathological processes such as antigen presentation, bone resorption, and tumor cell invasion. Defects in the gene encoding cathepsin C have been associated with several genetic disorders, including Papillon-Lefèvre syndrome and Haim-Munk syndrome, which are characterized by severe periodontal disease and skin abnormalities.

Keratosis, in general, refers to a skin condition characterized by the abnormal growth or development of keratin, a protein that forms part of the outer layer of the skin (epidermis). There are several types of keratosis, including:

1. Seborrheic Keratosis: benign, often pigmented, rough, and scaly growths that can appear anywhere on the body. They tend to increase in number with age.
2. Actinic Keratosis: rough, scaly patches or spots on the skin that are caused by long-term exposure to sunlight or artificial UV light. These have the potential to develop into squamous cell carcinoma, a type of skin cancer.
3. Solar Keratosis: another term for actinic keratosis, as it is primarily caused by sun damage.
4. Keratosis Pilaris: a common condition where small, rough bumps appear on the skin, often on the arms, thighs, or cheeks. These are caused by excess keratin blocking hair follicles.
5. Follicular Keratosis: a disorder characterized by the formation of horny plugs within the hair follicles, leading to rough, sandpaper-like bumps on the skin.
6. Intraepidermal Keratosis: a term used to describe the abnormal accumulation of keratin in the epidermis, which can lead to various skin conditions.

It's important to consult with a healthcare professional or dermatologist for proper diagnosis and treatment if you suspect having any form of keratosis.

Ointment bases refer to the vehicle or foundation in which active pharmaceutical ingredients are dispersed to form a semi-solid medication. These bases provide the necessary consistency for ointments, allowing easy application to the skin or other body surfaces. They can be composed of various materials such as fats, waxes, oils, and emulsifying agents.

The choice of an ointment base depends on several factors, including:

1. The desired physical properties (e.g., spreadability, absorption rate)
2. The route of administration (e.g., dermal, mucosal)
3. The compatibility with the active ingredient(s)
4. The intended therapeutic effect (e.g., occlusive, non-occlusive)

Some common types of ointment bases include:

1. Hydrocarbon bases: Consist of hydrophobic materials like petrolatum, white soft paraffin, and microcrystalline wax. They are generally inert, odorless, and resistant to oxidation.
2. Absorption bases: Contain a mixture of hydrocarbons and higher molecular weight esters or fatty alcohols. These bases have better penetrating properties than hydrocarbon bases and are suitable for drugs with low oil solubility.
3. Emulsifying bases: Comprise of water-in-oil (W/O) or oil-in-water (O/W) emulsions, which allow the dispersion of both hydrophilic and lipophilic drugs. Common examples include cetomacrogol and anhydrous lanette.
4. Water-soluble bases: Primarily consist of polyethylene glycols (PEGs) or other water-soluble materials. They are useful for drugs with high water solubility and provide a cooling sensation upon application.

It is essential to select an appropriate ointment base to ensure the optimal delivery, stability, and efficacy of the active ingredient(s).

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Ectodermal dysplasia (ED) is a group of genetic disorders that affect the development and formation of ectodermal tissues, which include the skin, hair, nails, teeth, and sweat glands. The condition is usually present at birth or appears in early infancy.

The symptoms of ED can vary widely depending on the specific type and severity of the disorder. Common features may include:

* Sparse or absent hair
* Thin, wrinkled, or rough skin
* Abnormal or missing teeth
* Nail abnormalities
* Absent or reduced sweat glands, leading to heat intolerance and problems regulating body temperature
* Ear abnormalities, which can result in hearing loss
* Eye abnormalities

ED is caused by mutations in genes that are involved in the development of ectodermal tissues. Most cases of ED are inherited in an autosomal dominant or autosomal recessive pattern, meaning that a child can inherit the disorder even if only one parent (dominant) or both parents (recessive) carry the mutated gene.

There is no cure for ED, but treatment is focused on managing the symptoms and improving quality of life. This may include measures to maintain body temperature, such as cooling vests or frequent cool baths; dental treatments to replace missing teeth; hearing aids for hearing loss; and skin care regimens to prevent dryness and irritation.

Petrolatum is a semi-solid mixture of hydrocarbons obtained from petroleum. In the medical field, it's often used as an ointment base or protective dressing because of its impermeability to water and bacteria. It's also known as petroleum jelly or soft paraffin.

The sternocostal joints are the articulations between the sternum (breastbone) and the costal cartilages of the true ribs (the first seven pairs of ribs). Specifically, the manubrium (the superior portion of the sternum) articulates with the second to seventh costal cartilages, while the body of the sternum articulates with the lower costal cartilages of the fifth to seventh ribs. These joints are synovial joints and allow for some degree of movement during respiration, contributing to the expansion and contraction of the thoracic cavity. The primary motion at these joints is a gliding or sliding motion.

Deafness is a hearing loss that is so severe that it results in significant difficulty in understanding or comprehending speech, even when using hearing aids. It can be congenital (present at birth) or acquired later in life due to various causes such as disease, injury, infection, exposure to loud noises, or aging. Deafness can range from mild to profound and may affect one ear (unilateral) or both ears (bilateral). In some cases, deafness may be accompanied by tinnitus, which is the perception of ringing or other sounds in the ears.

Deaf individuals often use American Sign Language (ASL) or other forms of sign language to communicate. Some people with less severe hearing loss may benefit from hearing aids, cochlear implants, or other assistive listening devices. Deafness can have significant social, educational, and vocational implications, and early intervention and appropriate support services are critical for optimal development and outcomes.

Keratins are a type of fibrous structural proteins that constitute the main component of the integumentary system, which includes the hair, nails, and skin of vertebrates. They are also found in other tissues such as horns, hooves, feathers, and reptilian scales. Keratins are insoluble proteins that provide strength, rigidity, and protection to these structures.

Keratins are classified into two types: soft keratins (Type I) and hard keratins (Type II). Soft keratins are found in the skin and simple epithelial tissues, while hard keratins are present in structures like hair, nails, horns, and hooves.

Keratin proteins have a complex structure consisting of several domains, including an alpha-helical domain, beta-pleated sheet domain, and a non-repetitive domain. These domains provide keratin with its unique properties, such as resistance to heat, chemicals, and mechanical stress.

In summary, keratins are fibrous structural proteins that play a crucial role in providing strength, rigidity, and protection to various tissues in the body.

Acquired hyperostosis syndrome is not a widely recognized medical term, and it may refer to several different conditions that involve abnormal bone growth or hardening. One possible condition that might be referred to as acquired hyperostosis syndrome is diffuse idiopathic skeletal hyperostosis (DISH).

Diffuse idiopathic skeletal hyperostosis is a non-inflammatory condition that affects the spine and other parts of the body. It is characterized by the calcification and ossification of ligaments and entheses, which are the sites where tendons or ligaments attach to bones. This process can lead to the formation of bony spurs or growths, called osteophytes, along the spine and other affected areas.

The exact cause of DISH is not known, but it is more common in older adults, males, and people with certain medical conditions such as diabetes and obesity. The symptoms of DISH can vary widely depending on the severity and location of the bone growths. Some people may experience stiffness, pain, or limited mobility in the affected areas, while others may have no symptoms at all.

It is important to note that there are many other conditions that can cause abnormal bone growth or hardening, so a proper medical evaluation is necessary to determine the underlying cause of any symptoms. If you have concerns about acquired hyperostosis syndrome or any other medical condition, you should speak with your healthcare provider for further guidance.

Psoriasis is a chronic skin disorder that is characterized by recurrent episodes of red, scaly patches on the skin. The scales are typically silvery-white and often occur on the elbows, knees, scalp, and lower back, but they can appear anywhere on the body. The exact cause of psoriasis is unknown, but it is believed to be related to an immune system issue that causes skin cells to grow too quickly.

There are several types of psoriasis, including plaque psoriasis (the most common form), guttate psoriasis, inverse psoriasis, pustular psoriasis, and erythrodermic psoriasis. The symptoms and severity of the condition can vary widely from person to person, ranging from mild to severe.

While there is no cure for psoriasis, various treatments are available that can help manage the symptoms and improve quality of life. These may include topical medications, light therapy, and systemic medications such as biologics. Lifestyle measures such as stress reduction, quitting smoking, and avoiding triggers (such as certain foods or alcohol) may also be helpful in managing psoriasis.

Genetic skin diseases are a group of disorders caused by mutations or alterations in the genetic material (DNA), which can be inherited from one or both parents. These mutations affect the structure, function, or development of the skin and can lead to various conditions with different symptoms, severity, and prognosis.

Some examples of genetic skin diseases include:

1. Epidermolysis Bullosa (EB): A group of disorders characterized by fragile skin and mucous membranes that blister and tear easily, leading to painful sores and wounds. There are several types of EB, each caused by mutations in different genes involved in anchoring the epidermis to the dermis.
2. Ichthyosis: A family of genetic disorders characterized by dry, thickened, scaly, or rough skin. The severity and symptoms can vary widely, depending on the specific type and underlying genetic cause.
3. Neurofibromatosis: A group of conditions caused by mutations in the NF1 gene, which regulates cell growth and division. The most common types, NF1 and NF2, are characterized by the development of benign tumors called neurofibromas on the skin and nerves, as well as other symptoms affecting various organs and systems.
4. Tuberous Sclerosis Complex (TSC): A genetic disorder caused by mutations in the TSC1 or TSC2 genes, which control cell growth and division. TSC is characterized by the development of benign tumors in multiple organs, including the skin, brain, heart, kidneys, and lungs.
5. Xeroderma Pigmentosum (XP): A rare genetic disorder caused by mutations in genes responsible for repairing DNA damage from ultraviolet (UV) radiation. People with XP are extremely sensitive to sunlight and have a high risk of developing skin cancer and other complications.
6. Incontinentia Pigmenti (IP): A genetic disorder that affects the development and growth of skin, hair, nails, teeth, and eyes. IP is caused by mutations in the IKBKG gene and primarily affects females.
7. Darier's Disease: An inherited skin disorder characterized by greasy, crusted, keratotic papules and plaques, usually located on the trunk, scalp, and seborrheic areas of the body. Darier's disease is caused by mutations in the ATP2A2 gene.

These are just a few examples of genetic skin disorders. There are many more, each with its unique set of symptoms, causes, and treatments. If you or someone you know has a genetic skin disorder, it is essential to consult with a dermatologist or other healthcare professional for proper diagnosis and treatment.

Porokeratosis is a skin condition characterized by the development of benign, progressive, and persistent papules or plaques with a ridge-like border called "cornoid lamella." These lesions can appear anywhere on the body but are most commonly found on sun-exposed areas. The condition results from abnormal keratinization and can be inherited or acquired. There are several types of porokeratosis, including porokeratosis of Mibelli, disseminated superficial actinic porokeratosis, punctate porokeratosis, linear porokeratosis, and porokeratosis palmaris et plantaris disseminata. The exact cause is unknown, but genetic mutations, ultraviolet (UV) radiation exposure, immunosuppression, and human papillomavirus (HPV) infection have been implicated in its development. Treatment options include topical therapies, cryotherapy, laser surgery, and photodynamic therapy.

The epidermis is the outermost layer of the skin, composed mainly of stratified squamous epithelium. It forms a protective barrier that prevents water loss and inhibits the entry of microorganisms. The epidermis contains no blood vessels, and its cells are nourished by diffusion from the underlying dermis. The bottom-most layer of the epidermis, called the stratum basale, is responsible for generating new skin cells that eventually move up to replace dead cells on the surface. This process of cell turnover takes about 28 days in adults.

The most superficial part of the epidermis consists of dead cells called squames, which are constantly shed and replaced. The exact rate at which this happens varies depending on location; for example, it's faster on the palms and soles than elsewhere. Melanocytes, the pigment-producing cells, are also located in the epidermis, specifically within the stratum basale layer.

In summary, the epidermis is a vital part of our integumentary system, providing not only physical protection but also playing a crucial role in immunity and sensory perception through touch receptors called Pacinian corpuscles.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

A frameshift mutation is a type of genetic mutation that occurs when the addition or deletion of nucleotides in a DNA sequence is not divisible by three. Since DNA is read in groups of three nucleotides (codons), which each specify an amino acid, this can shift the "reading frame," leading to the insertion or deletion of one or more amino acids in the resulting protein. This can cause a protein to be significantly different from the normal protein, often resulting in a nonfunctional protein and potentially causing disease. Frameshift mutations are typically caused by insertions or deletions of nucleotides, but they can also result from more complex genetic rearrangements.

Desmosomes are specialized intercellular junctions that provide strong adhesion between adjacent epithelial cells and help maintain the structural integrity and stability of tissues. They are composed of several proteins, including desmoplakin, plakoglobin, and cadherins, which form complex structures that anchor intermediate filaments (such as keratin) to the cell membrane. This creates a network of interconnected cells that can withstand mechanical stresses. Desmosomes are particularly abundant in tissues subjected to high levels of tension, such as the skin and heart.

Skin diseases, also known as dermatological conditions, refer to any medical condition that affects the skin, which is the largest organ of the human body. These diseases can affect the skin's function, appearance, or overall health. They can be caused by various factors, including genetics, infections, allergies, environmental factors, and aging.

Skin diseases can present in many different forms, such as rashes, blisters, sores, discolorations, growths, or changes in texture. Some common examples of skin diseases include acne, eczema, psoriasis, dermatitis, fungal infections, viral infections, bacterial infections, and skin cancer.

The symptoms and severity of skin diseases can vary widely depending on the specific condition and individual factors. Some skin diseases are mild and can be treated with over-the-counter medications or topical creams, while others may require more intensive treatments such as prescription medications, light therapy, or even surgery.

It is important to seek medical attention if you experience any unusual or persistent changes in your skin, as some skin diseases can be serious or indicative of other underlying health conditions. A dermatologist is a medical doctor who specializes in the diagnosis and treatment of skin diseases.

Connexins are a family of proteins that form the structural units of gap junctions, which are specialized channels that allow for the direct exchange of small molecules and ions between adjacent cells. These channels play crucial roles in maintaining tissue homeostasis, coordinating cellular activities, and enabling communication between cells. In humans, there are 21 different connexin genes that encode for these proteins, with each isoform having unique properties and distributions within the body. Mutations in connexin genes have been linked to a variety of human diseases, including hearing loss, skin disorders, and heart conditions.

Arrhythmogenic Right Ventricular Dysplasia (ARVD) is a rare cardiac condition characterized by the replacement of the normal heart muscle tissue in the right ventricle with fatty and fibrous tissues. This can lead to abnormal heart rhythms (arrhythmias), particularly during exercise or emotional stress.

The condition can be inherited and is often associated with genetic mutations that affect the desmosomes, which are protein structures that help connect heart muscle cells together. These mutations can weaken the heart muscle and make it more prone to arrhythmias and heart failure over time.

Symptoms of ARVD may include palpitations, chest pain, shortness of breath, dizziness, or fainting, especially during exercise. In some cases, the condition may not cause any symptoms and may only be discovered during a routine medical exam or evaluation for another condition.

Diagnosis of ARVD typically involves a combination of clinical evaluation, imaging tests such as echocardiography or magnetic resonance imaging (MRI), and electrophysiological testing to assess heart rhythm abnormalities. Treatment may include medications to control arrhythmias, implantable devices such as pacemakers or defibrillators, and lifestyle modifications such as avoiding strenuous exercise. In severe cases, a heart transplant may be necessary.

Osteitis is a medical term that refers to the inflammation of bone tissue. It can occur as a result of various conditions, such as infection (osteomyelitis), trauma, or autoimmune disorders. The symptoms of osteitis may include pain, swelling, warmth, and redness in the affected area, as well as fever and general malaise. Treatment typically involves addressing the underlying cause of the inflammation, which may involve antibiotics for infection or anti-inflammatory medications for other causes. In some cases, surgery may be necessary to remove infected or damaged bone tissue.

Acitretin is a synthetic form of retinoic acid, which is a type of vitamin A. It is used to treat severe psoriasis and other skin conditions. Acitretin works by slowing down the rapid growth of skin cells that cause the symptoms of psoriasis. It comes in the form of a capsule and is taken orally.

Common side effects of acitretin include dryness of the skin, lips, and mouth, itching, peeling, redness, or stickiness of the palms and soles, hair loss, and changes in nail growth. Less common but more serious side effects can include liver damage, increased levels of lipids in the blood, and birth defects if taken during pregnancy.

It is important to note that acitretin can cause birth defects, so women who are pregnant or planning to become pregnant should not take this medication. Additionally, because acitretin can remain in the body for a long time, it is recommended that women of childbearing age use effective contraception while taking this medication and for at least three years after stopping it.

Hyperhidrosis is a medical condition characterized by excessive sweating beyond the normal requirement for thermoregulation. It can affect various parts of the body, but it primarily occurs in the palms, soles, underarms, and face. The sweating can be so profuse that it can interfere with daily activities and cause significant distress or embarrassment. Hyperhidrosis can be primary (idiopathic), meaning there is no underlying medical condition causing it, or secondary, due to a known cause such as anxiety, certain medications, infections, or medical conditions like diabetes or hyperthyroidism.

The sternoclavicular joint is the joint where the clavicle (collarbone) meets the sternum (breastbone). It is the only joint that connects the upper limb to the trunk of the body. This joint allows for movement in multiple directions, including elevation and depression of the shoulder, as well as some degree of protraction and retraction. The sternoclavicular joint is supported by several ligaments, which provide stability and strength to the joint.

Hyperpigmentation is a medical term that refers to the darkening of skin areas due to an increase in melanin, the pigment that provides color to our skin. This condition can affect people of all races and ethnicities, but it's more noticeable in those with lighter skin tones.

Hyperpigmentation can be caused by various factors, including excessive sun exposure, hormonal changes (such as during pregnancy), inflammation, certain medications, and underlying medical conditions like Addison's disease or hemochromatosis. It can also result from skin injuries, such as cuts, burns, or acne, which leave dark spots known as post-inflammatory hyperpigmentation.

There are several types of hyperpigmentation, including:

1. Melasma: This is a common form of hyperpigmentation that typically appears as symmetrical, blotchy patches on the face, particularly the forehead, cheeks, and upper lip. It's often triggered by hormonal changes, such as those experienced during pregnancy or while taking birth control pills.
2. Solar lentigos (age spots or liver spots): These are small, darkened areas of skin that appear due to prolonged sun exposure over time. They typically occur on the face, hands, arms, and decolletage.
3. Post-inflammatory hyperpigmentation: This type of hyperpigmentation occurs when an injury or inflammation heals, leaving behind a darkened area of skin. It's more common in people with darker skin tones.

Treatment for hyperpigmentation depends on the underlying cause and may include topical creams, chemical peels, laser therapy, or microdermabrasion. Preventing further sun damage is crucial to managing hyperpigmentation, so wearing sunscreen with a high SPF and protective clothing is recommended.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

Dermatologic agents are medications, chemicals, or other substances that are applied to the skin (dermis) for therapeutic or cosmetic purposes. They can be used to treat various skin conditions such as acne, eczema, psoriasis, fungal infections, and wounds. Dermatologic agents include topical corticosteroids, antibiotics, antifungals, retinoids, benzoyl peroxide, salicylic acid, and many others. They can come in various forms such as creams, ointments, gels, lotions, solutions, and patches. It is important to follow the instructions for use carefully to ensure safety and effectiveness.

In medical terms, the skin is the largest organ of the human body. It consists of two main layers: the epidermis (outer layer) and dermis (inner layer), as well as accessory structures like hair follicles, sweat glands, and oil glands. The skin plays a crucial role in protecting us from external factors such as bacteria, viruses, and environmental hazards, while also regulating body temperature and enabling the sense of touch.

"Family Health" is not a term that has a single, widely accepted medical definition. However, in the context of healthcare and public health, "family health" often refers to the physical, mental, and social well-being of all members of a family unit. It includes the assessment, promotion, and prevention of health conditions that affect individual family members as well as the family as a whole.

Family health may also encompass interventions and programs that aim to strengthen family relationships, communication, and functioning, as these factors can have a significant impact on overall health outcomes. Additionally, family health may involve addressing social determinants of health, such as poverty, housing, and access to healthcare, which can affect the health of families and communities.

Overall, family health is a holistic approach to healthcare that recognizes the importance of considering the needs and experiences of all family members in promoting and maintaining good health.

Pyoderma is a term used in medicine to describe a bacterial skin infection. It's derived from two Greek words: "pyon" meaning pus and "derma" meaning skin.

The infection can result in inflammation, often characterized by redness, swelling, warmth, and pain. Pus-filled blisters or boils may also form, which can rupture and crust over as the infection progresses.

Pyoderma can occur in people of all ages but is particularly common in children. The causative bacteria are often Staphylococcus aureus or Streptococcus pyogenes. The condition can be superficial, affecting only the top layer of the skin (epidermis), or it can be deeper, involving the dermis and/or subcutaneous tissue.

Treatment typically involves antibiotics, either topical or oral, depending on the severity and extent of the infection. In some cases, drainage of pus-filled abscesses may be necessary. Preventive measures such as good hygiene and keeping skin clean and dry can help reduce the risk of pyoderma.

Nail diseases, also known as onychopathies, refer to a group of medical conditions that affect the nail unit, which includes the nail plate, nail bed, lunula, and surrounding skin (nail fold). These diseases can be caused by various factors such as fungal infections, bacterial infections, viral infections, systemic diseases, trauma, and neoplasms.

Some common examples of nail diseases include:

1. Onychomycosis - a fungal infection that affects the nail plate and bed, causing discoloration, thickening, and crumbling of the nail.
2. Paronychia - an infection or inflammation of the nail fold, caused by bacteria or fungi, resulting in redness, swelling, and pain.
3. Ingrown toenails - a condition where the nail plate grows into the surrounding skin, causing pain, redness, and infection.
4. Onycholysis - a separation of the nail plate from the nail bed, often caused by trauma or underlying medical conditions.
5. Psoriasis - a systemic disease that can affect the nails, causing pitting, ridging, discoloration, and onycholysis.
6. Lichen planus - an inflammatory condition that can affect the skin and nails, causing nail thinning, ridging, and loss.
7. Melanonychia - a darkening of the nail plate due to pigmentation, which can be benign or malignant.
8. Brittle nails - a condition characterized by weak, thin, and fragile nails that easily break or split.
9. Subungual hematoma - a collection of blood under the nail plate, often caused by trauma, resulting in discoloration and pain.
10. Tumors - abnormal growths that can develop in or around the nail unit, ranging from benign to malignant.

Accurate diagnosis and treatment of nail diseases require a thorough examination and sometimes laboratory tests, such as fungal cultures or skin biopsies. Treatment options vary depending on the underlying cause and may include topical or oral medications, surgical intervention, or lifestyle modifications.

In medical terms, the foot is the part of the lower limb that is distal to the leg and below the ankle, extending from the tarsus to the toes. It is primarily responsible for supporting body weight and facilitating movement through push-off during walking or running. The foot is a complex structure made up of 26 bones, 33 joints, and numerous muscles, tendons, ligaments, and nerves that work together to provide stability, balance, and flexibility. It can be divided into three main parts: the hindfoot, which contains the talus and calcaneus (heel) bones; the midfoot, which includes the navicular, cuboid, and cuneiform bones; and the forefoot, which consists of the metatarsals and phalanges that form the toes.

Pityriasis rosea is a common, self-limited skin condition characterized by the development of oval or round, scaly, pinkish, inflamed patches on the skin. The initial lesion, known as the "herald patch," often appears before other lesions and measures 2-10 cm in diameter. It usually starts as a single, solitary, scaly, raised patch on the trunk that precedes the generalized eruption by about 1-2 weeks. The rash typically spreads to involve the chest, abdomen, back, arms, and legs, sparing the face, palms, and soles.

The rash is often asymptomatic but can be pruritic (itchy) in some cases. It usually resolves within 6-12 weeks without any treatment, although topical treatments such as corticosteroids or antihistamines may be used to relieve itching. The exact cause of pityriasis rosea is not known, but it is thought to be caused by a viral infection. It is more common in young adults and is more prevalent in the spring and fall seasons.

"Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation". Br. J. Dermatol. 165 (6): 1290-2. doi: ... Mutations in K6C have been identified as being able to cause diffuse and focal palmoplantar keratodermas. This has been ... Bowden PE (2010). "Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma". J. Invest. Dermatol. ... "Keratin K6c mutations cause focal palmoplantar keratoderma". J. Invest. Dermatol. 130 (2): 425-9. doi:10.1038/jid.2009.215. ...
"Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation". Br. J. Dermatol. 165 (6): 1290-2. doi: ... Diffuse nonepidermolytic palmoplantar keratoderma. The hydrolysis that elastases bring about occur in several steps, starting ... 150 mM NaCl Mutations of the CELA1 gene were suspected to be associated with diffuse nonepidermolytic palmoplantar keratoderma ... More recently, a specific mutation in the KRT6C gene has been linked to some cases of diffuse NEPPK. A possible polymorphism of ...
... diffuse, focal, and punctate.: 505 Diffuse palmoplantar keratoderma is a type of palmoplantar keratoderma that is characterized ... Striate palmoplantar keratoderma (also known as "Acral keratoderma", "Brünauer-Fuhs-Siemens type of palmoplantar keratoderma ... Diffuse epidermolytic palmoplantar keratoderma (also known as "Palmoplantar keratoderma cum degeneratione granulosa Vörner", " ... 506 Diffuse nonepidermolytic palmoplantar keratoderma (also known as "Diffuse orthohyperkeratotic keratoderma", "Hereditary ...
... may refer to: Diffuse nonepidermolytic palmoplantar keratoderma Erythrokeratodermia ...
Nonfamilial diffuse palmoplantar keratoderma associated with bronchial carcinoma. J Am Acad Dermatol 28(2 Pt 2):295-297 Murata ... "focal non-epidermolytic palmoplantar keratoderma with carcinoma of the esophagus," "Palmoplantar ectodermal dysplasia type III ... "palmoplantar keratoderma associated with esophageal cancer," "tylosis": 213 : 511 and "tylosis-esophageal cancer" Palmoplantar ... Cancer 72(1):17-19 Baykal C, Savci N, Kavak A, Kurul S (2002) Palmoplantar keratoderma and oral leucoplakia with cutaneous horn ...
... syndrome is a rare genetic disorder which is characterized by either focal or diffuse early-onset palmoplantar keratoderma and ... "Orphanet: Palmoplantar keratoderma deafness syndrome Palmoplantar keratoderma hearing loss syndrome". www.orpha.net (in Spanish ... "Keratoderma palmoplantar deafness". "Palmoplantar keratoderma with deafness: MedlinePlus Genetics". medlineplus.gov. Retrieved ... Palmoplantar keratoderma with deafness, also known as Palmoplantar keratoderma-deafness ...
... "diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy" or "diffuse palmoplantar keratoderma ... is a cutaneous condition characterized by a palmoplantar keratoderma. The prevalence of the syndrome is up to 1 in every 1000 ... "Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma ... "Keratoderma with woolly hair". Genetics Home Reference. 17 April 2018. Retrieved 17 April 2018. "Naxos disease - About the ...
... diffuse palmoplantar keratoderma, distal onycholysis, skeletal abnormalities, with brachydactyly, short stature, and medullary ... Palmoplantar keratoderma Keratoderma Skin lesion Terminal osseous dysplasia with pigmentary defects List of cutaneous ... ISBN 0-07-138067-1. v t e (Articles with short description, Short description is different from Wikidata, Palmoplantar ...
... keratoderma, palmoplantar MeSH C16.320.850.475.440 - keratoderma, palmoplantar, diffuse MeSH C16.320.850.475.600 - Papillon- ...
... hyperostosis Diffuse leiomyomatosis with Alport syndrome Diffuse neonatal hemangiomatosis Diffuse palmoplantar keratoderma, ... Bothnian type Diffuse panbronchiolitis Diffuse parenchymal lung disease DiGeorge syndrome Digestive duplication ... Die Smulders-Vles-Fryns syndrome Diencephalic syndrome Dieterich's disease Diethylstilbestrol antenatal infection Diffuse ...
... keratoderma, palmoplantar MeSH C17.800.428.435.440 - keratoderma, palmoplantar, diffuse MeSH C17.800.428.435.600 - Papillon- ... keratoderma, palmoplantar MeSH C17.800.827.475.440 - keratoderma, palmoplantar, diffuse MeSH C17.800.827.475.600 - Papillon- ... diffuse MeSH C17.300.799.801 - scleroderma, limited MeSH C17.300.799.801.500 - CREST syndrome MeSH C17.800.030.030 - acne ... diffuse MeSH C17.800.784.801 - scleroderma, limited MeSH C17.800.784.801.500 - CREST syndrome MeSH C17.800.794.111 - acne ...
... may refer to: In medicine Diffuse nonepidermolytic palmoplantar keratoderma, a skin condition of the palms and soles ...
... palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma mal de Meleda Focal palmoplantar keratoderma Striate ... hyperkeratosis Complex keratodermas Diffuse palmoplantar keratoderma Erythrokeratodermia variabilis Palmoplantar keratoderma of ... palmoplantar keratoderma Punctate palmoplantar keratoderma Keratosis punctata palmaris et plantaris Spiny keratoderma Focal ... with esophageal cancer Palmoplantar keratoderma and spastic paraplegia Naxos disease Striate palmoplantar keratoderma, woolly ...
ACM can be found in association with diffuse palmoplantar keratoderma, and woolly hair, in an autosomal recessive condition ...
Patrizi, A.; Di Lernia, V.; Patrone, P. (May 1992). "Palmoplantar keratoderma with sclerodactyly (Huriez syndrome)". Journal of ... Wielosz Kurowska Suszek Majdan (2017). "Coexistence of diabetes mellitus type 1 with diffuse systemic sclerosis - case report ... along with palmoplantar keratoderma and skin cancer. Sclerodactyly sometimes arises as a complication of the microvascular ...
Sudanophilic Leukodystrophy Leukoencephalopathy palmoplantar keratoderma Leukomalacia Leukomelanoderma mental retardation ... diffuse Lymphoma, small cleaved-cell, follicular Lymphoma Lymphomatoid granulomatosis Lymphomatoid Papulosis (LyP) Lymphomatous ... cell granulomatosis Langerhans cell histiocytosis Laparoschisis Laplane-Fontaine-Lagardere syndrome Large B-cell diffuse ...
... "acral keratoderma", "mutilating palmoplantar keratoderma of the Gamborg-Nielsen type", "palmoplantar ectodermal dysplasia type ... Diffuse PPK: Symmetric pattern Focal PPK: Compact masses Punctate PPK: Distribution of many keratoses ichthyosis psoriasis ... Palmoplantar keratoderma List of cutaneous conditions Online Mendelian Inheritance in Man (OMIM): 248300 Freedberg, et al. ( ... "palmoplantar keratoderma of the Norrbotten type") is an extremely rare autosomal recessive congenital skin disorder in which ...
RSPO1 Palmoplantar keratoderma, nonepidermolytic; 600962; KRT16 Palmoplantar keratoderma, nonepidermolytic, focal; 613000; ... familial diffuse; 137215; CDH1 Gastric cancer, somatic; 137215; APC Gastric cancer, somatic; 137215; CASP10 Gastric cancer, ... and palmoplantar keratoderma syndrome; 609528; SNAP29 Cerebral palsy, spastic quadriplegic, 3; 612936; AP4M1 Cerebral palsy, ... KRT10 Epidermolytic palmoplantar keratoderma; 144200; KRT9 Epilepsy, benign neonatal, type 2; 121201; KCNQ3 Epilepsy, benign, ...
2011), epidermolytic palmoplantar keratoderma (EPPK) (Lyu et al. 2016), and lattice corneal dystrophy type I (LCDI) (Courtney ... Delivering pure DNA to target organisms is challenging because its large size and structure prevents it from diffusing readily ...
Vörner's epidermolytic palmoplantar keratoderma, Vörner keratoderma) Diffuse nonepidermolytic palmoplantar keratoderma (diffuse ... palmoplantar keratoderma areata, palmoplantar keratoderma striata, Wachter keratoderma, Wachters palmoplantar keratoderma) ... diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy, diffuse palmoplantar keratoderma with ... Diffuse epidermolytic palmoplantar keratoderma (palmoplantar keratoderma cum degeneratione granulosa Vörner, ...
... syndrome Hypoplastic right heart syndrome Hypotonia Hypotrichosis-acro-osteolysis-onychogryphosis-palmoplantar keratoderma- ... Descending perineum syndrome Diabetic stiff hand syndrome Dialysis disequilibrium syndrome Diencephalic syndrome Diffuse ... syndrome Keratitis-ichthyosis-deafness syndrome Keratosis linearis with ichthyosis congenita and sclerosing keratoderma ...
Acquired diffuse palmoplantar keratoderma. Acquired diffuse palmoplantar keratoderma (PPK) is believed to represent a ... myasthenia gravis and non-familial diffuse palmoplantar keratoderma. Leuk Lymphoma. Sep 2004. 45(9):1913-8. [QxMD MEDLINE Link] ... Palmoplantar keratoderma ("tripe palms") associated with primary pulmonary adenocarcinoma. Thorax. 2005 Nov. 60(11):976. [QxMD ... Acquired palmoplantar keratoderma. Am J Clin Dermatol. 2007. 8(1):1-11. [QxMD MEDLINE Link]. ...
"Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation". Br. J. Dermatol. 165 (6): 1290-2. doi: ... Mutations in K6C have been identified as being able to cause diffuse and focal palmoplantar keratodermas. This has been ... Bowden PE (2010). "Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma". J. Invest. Dermatol. ... "Keratin K6c mutations cause focal palmoplantar keratoderma". J. Invest. Dermatol. 130 (2): 425-9. doi:10.1038/jid.2009.215. ...
615598), which is an autosomal recessive palmoplantar keratoderma (21). However, the c.745C,T (p.R249X) mutation was ... The patient exhibited a wide range of clinical feature including fragile skin, blister formation, photosensitivity, diffuse ... Therefore, although the patient exhibited palmoplantar keratoderma, this symptom was caused by KS, not NPKK. ... pneumothorax and palmoplantar keratoderma. The patients parents were healthy and the patient had no siblings or children. ...
Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma. Am J Hum Genet; 93(2):330-335. ... mutations in AQP5 as the underlying cause of an autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma ( ... Understanding palmoplantar skin as a model of stress. Compared to the hairy skin covering the majority of the human body, ... However, palmoplantar skin remains largely under-studied and the mechanisms involved in maintaining barrier function in the ...
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome. Acrocyanosis. ORPHA:86918. Nephropathy-Deafness-Hyperparathyroidism ...
Diffuse Nonepidermolytic Palmoplantar Keratoderma Caused by a Recurrent Nonsense Mutation in DSG1. ... and Palmoplantar Keratoderma. Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, ... The present study illustrates the efficacy of an integrative diagnostic approach to palmoplantar keratodermas involving ...
... is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the ... For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200). ... Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature*Palmoplantar keratoderma- ... Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and ...
Diffuse palmoplantar keratoderma, Bothnian type From NCATS Genetic and Rare Diseases Information Center ...
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK description, symptoms and related genes. Get the complete information in our ... diffuse erythrodermic palmoplantar keratoderma, voerner type; diffuse erythrodermic palmoplantar keratoderma, vörner type; eppk ... Palmoplantar Keratoderma, Epidermolytic; Eppk Is also known as ppke, keratoderma, epidermolytic palmoplantar, palmoplantar ... Palmoplantar Keratoderma, Epidermolytic; Eppk. Description. Palmoplantar keratoderma (PPK) is a common hereditary cutaneous ...
palmoplantar keratoderma, nonepidermolytic, focal or diffuse. MONDO:0014327 Submitted as: OMIM:615735 ...
Hinterberger L, Pföhler C, Vogt T, Müller CS.Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-). BMJ Case Rep. 2012 ... Diffuse non-epidermolytic palmoplantar keratoderma.Indian Pediatr. 2013 Oct;50(10):979. ... KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolyticpalmoplantar keratoderma. Gene. ...
Palmoplantar keratoderma i, striate, focal, or diffuse. Striate palmoplantar keratoderma belongs to a group of skin diseases in ... Hypopigmentation-punctate palmoplantar keratoderma syndrome. Cole disease is a rare autosomal dominant disorder characterized ... Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital ... Hyperkeratosis of the soles primarily involves pressure points, and diffuse background palmoplantar thickening may also be ...
Keratoderma, Palmoplantar, Diffuse Medicine & Life Sciences 9% View full fingerprint Cite this. * APA ...
Palmoplantar keratoderma, nonepidermolytic, focal 11 test. *Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test ... Palmoplantar keratoderma-deafness syndrome1 test. *Palmoplantar keratoderma-esophageal carcinoma syndrome1 test ...
Transgrediens palmoplantar keratoderma of Siemens, see Mal de Meleda. *Transient neonatal diabetes mellitus 1, see 6q24-related ... Toxic diffuse goiter, see Graves disease. *Toxic epidermal necrolysis, see Stevens-Johnson syndrome/toxic epidermal necrolysis ...
There are four patterns of hyperkeratosis: striate, focal, diffuse, and punctate. Mutations in desmoglein-1 (DSG1), a ... Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening. ... Dive into the research topics of Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes: ... Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes : implications for genetic screening. In ...
O Diffuse nuclear cataract,O Diffuse optic disc pallor,O Diffuse palmoplantar hyperkeratosis,O Diffuse palmoplantar keratoderma ... O Palmoplantar erythema,O Palmoplantar hyperhidrosis,O Palmoplantar hyperkeratosis,O Palmoplantar keratoderma,O Palmoplantar ... O Diffuse,O Diffuse alveolar hemorrhage,O Diffuse axonal swelling,O Diffuse cerebellar atrophy,O Diffuse cerebral atrophy,O ... O Diffuse reticular or finely nodular infiltrations,O Diffuse skin atrophy,O Diffuse slow skin atrophy,O Diffuse spongiform ...
obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature. http://purl.obolibrary.org/obo/ ... obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature. http://purl.obolibrary.org/obo/ ...
Diffuse transgredient palmoplantar keratoderma, typically developing within the first 3 years of life. Punctiform accentuation ... Retinoids slow the alveolar bone lysis and attenuate the palmoplantar keratoderma. Elective extraction of involved teeth may ... particularly along the palmoplantar creases. This keratoderma associates, as early as infancy, intense gingivitis with alveolar ...
Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts. Arif, Tasleem; Amin, Syed Suhail; Adil, ... Additionally, palmoplantar keratoderma in pachyonychia congenita is mainly focal rather than diffuse, as in our case. However, ... Diffuse palmoplantar hyperkeratosis is a characteristic sign which may extend to the dorsum of the hands and feet (4). However ... Unilateral striate-punctate keratoderma: An extremely rare presentation of punctate keratoderma. Arif, Tasleem; Adil, Mohammad ...
Greither syndrome [6] A type of diffuse Palmoplantar Keratoderma (PPK) (transgrediens and progrediens PPK), originally ... 6. Al Aboud K, Al Aboud A: Eponyms in the dermatology literature linked to Palmo-Plantar Keratoderma. Our Dermatol Online. 2013 ... Honeycombed, diffuse hyperkeratosis of the palms and soles appears in infancy and then becomes transgredient. This is followed ... It is characterized by a diffuse transgredient PPK with onset in early infancy. Named for, Aloys Greither (1914-1986), a German ...
Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair ... Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J. 1986 Oct. 56(4):321-6. [QxMD MEDLINE Link]. [Full Text]. ... Extracardiac manifestations include palmoplantar keratosis and curly hair seen in individuals with autosomal-recessive ...
Palmoplantar keratoderma, nail dystrophy, and enamel defects are common in Naegeli-Franceschetti-Jadassohn syndrome, whereas ... whereas diffuse alopecia is only seen in dermatopathia pigmentosa reticularis. We studied a large Swiss family with Naegeli- ... Palmoplantar keratoderma, nail dystrophy, and enamel defects are common in Naegeli-Franceschetti-Jadassohn syndrome, whereas ... Palmoplantar keratoderma, nail dystrophy, and enamel defects are common in Naegeli-Franceschetti-Jadassohn syndrome, whereas ...
... an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma and transgressive keratosis. Moreover, ...
Palmoplantar Keratodermas - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical ... Diffuse nonepidermolytic palmoplantar keratoderma: This autosomal dominant form develops in infancy and causes well-demarcated ... Palmoplantar keratodermas encompass a broad range of inherited disorders. They may be categorized based on degree of skin ... Palmoplantar keratodermas are rare inherited disorders characterized by palmar and plantar hyperkeratosis. ...
... diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. J Invest Dermatol. 2006 Jan; 126(1):79-84. PMID ... A prospective observational study of mycophenolate mofetil treatment in progressive diffuse cutaneous systemic sclerosis of ...
Keratoderma Blennorrhagicum use Keratosis Keratoderma, Palmoplantar Keratoderma, Palmoplantar, Diffuse Keratoderma, ...
Keratoderma Blennorrhagicum use Keratosis Keratoderma, Palmoplantar Keratoderma, Palmoplantar, Diffuse Keratoderma, ...
Keratoderma Blennorrhagicum use Keratosis. Keratoderma, Palmoplantar. Keratoderma, Palmoplantar, Diffuse. Keratoderma, ...
  • KS is characterized by skin fragility acral blister formation beginning at birth or in early infancy, diffuse cutaneous atrophy, poikiloderma, photosensitivity (which is severe during childhood and usually weakens after adolescence), palmoplantar hyperkeratosis and pseudo syndactyly ( 1 ). (spandidos-publications.com)
  • Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al. (nih.gov)
  • Palmoplantar keratodermas are rare inherited disorders characterized by palmar and plantar hyperkeratosis. (msdmanuals.com)
  • Conditions characterized by palmoplantar keratosis (PPK) are the most causes of congenital hyperkeratosis. (faoj.org)
  • We identified mutations in AQP5 as the underlying cause of an autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma (NEPPK), a skin disease characterised by thickening of the epidermis on the palms and soles along with an outside-in barrier defect. (qmul.ac.uk)
  • 1994). For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200). (nih.gov)
  • Palmoplantar keratoderma, epidermolytic (sequence analysis of KRT9 gene). (mendelian.co)
  • Palmoplantar Keratoderma, Epidermolytic via KRT9 Gene Sequencing with CNV Detection. (mendelian.co)
  • Diffuse non-epidermolytic palmoplantar keratoderma.Indian Pediatr. (dermacompass.net)
  • Diffuse nonepidermolytic palmoplantar keratoderma: This autosomal dominant form develops in infancy and causes well-demarcated, symmetric keratoderma involving the entirety of the palms and soles. (msdmanuals.com)
  • 7] It is a disease of autosomal dominant origin characterized by severe palmoplantar keratosis. (faoj.org)
  • 1] Vohwinkel's syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant condition first described in 1929. (faoj.org)
  • Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. (findzebra.com)
  • Mutations in K6C have been identified as being able to cause diffuse and focal palmoplantar keratodermas. (wikipedia.org)
  • INTRODUCTION: The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. (dundee.ac.uk)
  • Palmoplantar keratodermas encompass a broad range of inherited disorders. (msdmanuals.com)
  • Genetic Heterogeneity of Palmoplantar KeratodermaNonepidermolytic palmoplantar keratoderma ( NEPPK ) is caused by mutation in the KRT1 gene. (mendelian.co)
  • Extracardiac manifestations include palmoplantar keratosis and curly hair seen in individuals with autosomal-recessive inheritance. (medscape.com)
  • Case presentations describing a congenital variation of palmoplantar keratosis are presented. (faoj.org)
  • Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. (nih.gov)
  • Diffuse transgredient palmoplantar keratoderma, typically developing within the first 3 years of life. (lu.se)
  • It is characterized by a diffuse transgredient PPK with onset in early infancy. (cyberleninka.org)
  • Palmoplantar keratoderma, nail dystrophy, and enamel defects are common in Naegeli-Franceschetti-Jadassohn syndrome, whereas diffuse alopecia is only seen in dermatopathia pigmentosa reticularis. (tau.ac.il)
  • This keratoderma associates, as early as infancy, intense gingivitis with alveolar bone lysis and early loss of baby teeth. (lu.se)
  • The function of AQP5 in epidermal keratinocytes is currently unknown, but the diffuse NEPPK patient phenotype indicates that AQP5 has a role in the establishment and/or maintenance of the epidermal barrier, particularly in the highly specialised epidermis of the palms and soles (palmoplantar) which is exposed to increased levels of mechanical stress. (qmul.ac.uk)
  • Compared to the hairy skin covering the majority of the human body, palmoplantar skin found on our palms and soles is highly specialized to withstand increased levels of mechanical stress. (qmul.ac.uk)
  • Diffuse abnormal thickening of the skin on the palms and soles. (nih.gov)
  • Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. (findzebra.com)
  • Follow this link to review classifications for Palmoplantar keratoderma-esophageal carcinoma syndrome in Orphanet. (nih.gov)
  • The diffuse Bothnian form of NEPPK ( PPKB ) is caused by mutation in the AQP5 gene ( OMIM ). (mendelian.co)
  • Mutations in desmoglein-1 (DSG1), a transmembrane glycoprotein, have been reported primarily in striate, but also in focal and diffuse PPKs. (dundee.ac.uk)
  • Mutations in desmoglein-1 (DSG1), a transmembrane glycoprotein, have been reported primarily in striate, but also in focal and diffuse PPKs.OBJECTIVES: We report seven unrelated pedigrees with dominantly inherited PPK due to mutations in the DSG1 gene, with marked phenotypic variation.METHODS: Genomic DNA from each family was isolated, and individual exons amplified by polymerase chain reaction (PCR). (dundee.ac.uk)
  • Greither syndrome [6] A type of diffuse Palmoplantar Keratoderma (PPK) (transgrediens and progrediens PPK), originally described in 1952. (cyberleninka.org)
  • KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolyticpalmoplantar keratoderma. (dermacompass.net)
  • Clinical variability of ectodermal features has been observed, with hair anomalies ranging from woolly hair to alopecia, and skin abnormalities ranging from mild focal palmoplantar keratoderma to generalized skin fragility or even lethal neonatal epidermolysis bullosa (Protonotarios et al. (nih.gov)
  • These lesions can be divided into diffuse and punctuate. (faoj.org)
  • We hypothesise that a greater appreciation of the molecular mechanisms employed by the palmoplantar epidermis will improve our understanding of hyperproliferative skin conditions in general. (qmul.ac.uk)
  • However, palmoplantar skin remains largely under-studied and the mechanisms involved in maintaining barrier function in the presence of a 'stress' phenotype are not fully understood. (qmul.ac.uk)
  • Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term). (orpha.net)
  • Differential diagnosis includes other forms of keratinopathic ichthyosis such as epidermolytic ichthyosis, as well as epidermolytic palmoplantar keratoderma, erythrokeratodermia variabilis, and KID syndrome (see these terms). (orpha.net)
  • They have been associated with autosomal dominant palmoplantar keratoderma with and without ichthyosis vulgaris. (medscape.com)
  • These findings strongly suggest that screening of patients with nonepidermolytic diffuse PPK, in whom the pathogenic mutations are yet to be determined, might identify mutations in KRT6C. (nih.gov)
  • Other diffuse hereditary PPKs include Greither syndrome, Bart-Pumphrey syndrome (PPK with knuckle pads, leukonychia, and deafness), Huriez syndrome (PPK with scleroatrophy), Clouston syndrome ( hidrotic ectodermal dysplasia ), diffuse nonepidermolytic PPK with sensorineural deafness, and Naxos disease (diffuse nonepidermolytic PPK with woolly hair and cardiomyopathy). (logicalimages.com)
  • Diffuse nonepidermolytic palmoplantar keratoderma: This autosomal dominant form develops in infancy and causes well-demarcated, symmetric keratoderma involving the entirety of the palms and soles. (msdmanuals.com)
  • Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. (beds.ac.uk)
  • Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma. (nih.gov)
  • Patients manage plantar keratoderma and thickened nails by various methods of exfoliation (e.g., filing or grinding). (acom-healthcare.dev)
  • Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. (findzebra.com)
  • Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. (nih.gov)
  • Hereditary PPKs are approached and classified by the pattern of hyperkeratosis: diffuse, focal (often occurring over weight-bearing areas), or punctate. (logicalimages.com)
  • Mal de Meleda is a rare diffuse hereditary PPK associated with SLURP1 mutations and features stocking-glove distribution of hyperkeratosis with malodor and nail changes. (logicalimages.com)
  • The most clear defined hereditary predisposition associated with ESCC is palmoplantar keratoderma (PPK). (biomedcentral.com)
  • Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma ( KERATODERMA, PALMOPLANTAR ), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present. (nih.gov)
  • 13 Additional symptoms of PC include oral leukokeratosis (mouth plaques/erosions), cysts, follicular hyperkeratosis, palmoplantar hyperhidrosis, and occasionally natal teeth. (acom-healthcare.dev)
  • Mal de Meleda is a rare autosomal recessive palmoplantar keratoderma (PPK) disease with an estimated prevalence of 1:100,000. (medscape.com)
  • We report here a novel KRT6C mutation identified in a Japanese family with PPK with phenotypic heterogeneity, presenting with not only focal but also diffuse hyperkeratosis. (nih.gov)
  • The proband had diffuse hyperkeratosis on the soles and small focal hyperkeratoses on the palms, while the two other affected individuals showed focal hyperkeratoses on the soles. (nih.gov)
  • Accumulation of tyrosine leads to focal (or diffuse) hyperkeratotic plaques on the hands, feet, elbows, and knees, corneal inflammation / ulceration, and intellectual disability in some cases. (logicalimages.com)
  • De-scaling of the skin with topical keratolytics or oral retinoids often removes too much scale (epidermis), resulting in raw exposed dermis.8 Bathing with salt or sodium bicarbonate is less effective than keratolytics but may help reduce palmoplantar keratoderma. (acom-healthcare.dev)
  • Don't fight Keratoderma palmoplantaris transgrediens alone. (rareguru.com)
  • Connect with other caregivers and patients with Keratoderma palmoplantaris transgrediens and get the support you need. (rareguru.com)
  • How to cite this article: Jose S, Kamath K N, Pai G S, Pinto J. Punctate palmoplantar keratoderma. (symptoma.com)
  • Scaling and thickening of the skin on the hands and feet (palmoplantar keratoderma) can become severe, limiting mobility and hand dexterity. (acom-healthcare.dev)
  • Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. (nih.gov)
  • 4) Palmoplantar Keratoderma with sclerodactyly (hardening and thickening of the connective tissues of the fingers and toes). (symptoma.com)
  • emollients and keratolytics to relieve palmoplantar hyperkeratosis. (nih.gov)
  • Keratoderma, Palmoplantar" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)
  • Patients are also affected with striate or diffuse PPK. (orpha.net)
  • Hyperkeratosis is often diffuse and more pronounced on extensor areas of the limbs, extremities and the trunk. (orpha.net)
  • Additionaly, oral leukoplakia and esophageal hyperkeratosis may accompany to palmoplantar keratoderma. (biomedcentral.com)
  • Treatment - Keratoderma palmoplantar spastic paralysis Not supplied. (symptoma.com)