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.
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 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.
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).
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.
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 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.
Diseases of the nail plate and tissues surrounding it. The concept is limited to primates.
An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.
Curved rows of HAIR located on the upper edges of the eye sockets.
Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.
A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
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.
Inflammation of the tongue.
The thin, horny plates that cover the dorsal surfaces of the distal phalanges of the fingers and toes of primates.
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
A keratin subtype that includes keratins that are generally larger and less acidic that TYPE I KERATINS. Type II keratins combine with type I keratins to form keratin filaments.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Persistent flexure or contracture of a joint.
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

Pachyonychia congenita associated with median rhomboid glossitis. (1/27)

A 3-year-old girl presented with subungual hyperkeratosis and nail plates with increased transverse curvature, distal elevation, yellow-brown discoloration, and mild thickening. The changes, which affected all 20 nails, had developed during the first year of life. Mucocutaneous examination showed the presence of median rhomboid glossitis. The patient's mother had similar nail changes, which had been present since infancy as well as a focal plantar keratoderma and hyperhidrosis. The patient's clinical presentation and history were compatible with a diagnosis of pachyonychia congenita, a rare heritable disease that affects the nails, skin, oral and laryngeal mucosae, teeth, and hair. Dominant-negative mutations in four keratin genes (K6a, K6b, K16, and K17) lead to keratinocyte fragility and the resultant pachyonychia congenita phenotype. Successful targeted therapies are currently lacking for this oftentimes disabling disorder. Although oral manifestations are a common feature of PC, to our knowledge, this represents the first report of median rhomboid glossitis in association with PC.  (+info)

Development of therapeutic siRNAs for pachyonychia congenita. (2/27)

Pachyonychia congenita (PC) is an autosomal-dominant keratin disorder where the most painful, debilitating aspect is plantar keratoderma. PC is caused by mutations in one of four keratin genes; however, most patients carry K6a mutations. Knockout mouse studies suggest that ablation of one of the several K6 genes can be tolerated owing to compensatory expression of the others. Here, we have developed potent RNA interference against K6a as a paradigm for treating a localized dominant skin disorder. Four small interfering RNAs (siRNAs) were designed against unique sequences in the K6a 3'-untranslated region. We demonstrated near-complete ablation of endogenous K6a protein expression in two keratinocyte cell lines, HaCaT and NEB-1, by transient transfection of each of the four K6a siRNAs. The siRNAs were effective at very low, picomolar concentrations. One potent lead K6a inhibitor, which was highly specific for K6a, was tested in a mouse model where reporter gene constructs were injected intradermally into mouse paw and luciferase activity was used as an in vivo readout. Imaging in live mice using the Xenogen IVIS system demonstrated that the K6a-specific siRNA strongly inhibited bicistronic K6a-luciferase gene expression in vivo. These data suggest that siRNAs can specifically and very potently target mutated genes in the skin and support development of these inhibitors as potential therapeutics.  (+info)

Mice expressing a mutant Krt75 (K6hf) allele develop hair and nail defects resembling pachyonychia congenita. (3/27)

KRT75 (formerly known as K6hf) is one of the isoforms of the keratin 6 (KRT6) family located within the type II cytokeratin gene cluster on chromosome 12 of humans and chromosome 15 of mice. KRT75 is expressed in the companion layer and upper germinative matrix region of the hair follicle, the medulla of the hair shaft, and in epithelia of the nail bed. Dominant mutations in members of the KRT6 family, such as in KRT6A and KRT6B cause pachyonychia congenita (PC) -1 and -2, respectively. To determine the function of KRT75 in skin appendages, we introduced a dominant mutation into a highly conserved residue in the helix initiation peptide of Krt75. Mice expressing this mutant form of Krt75 developed hair and nail defects resembling PC. This mouse model provides in vivo evidence for the critical roles played by Krt75 in maintaining hair shaft and nail integrity. Furthermore, the phenotypes observed in our mutant Krt75 mice suggest that KRT75 may be a candidate gene for screening PC patients who do not exhibit obvious mutations in KRT6A, KRT6B, KRT16, or KRT17, especially those with extensive hair involvement.  (+info)

Single-nucleotide-specific siRNA targeting in a dominant-negative skin model. (4/27)

RNA interference offers a novel approach for developing therapeutics for dominant-negative genetic disorders. The ability to inhibit expression of the mutant allele without affecting wild-type gene expression could be a powerful new treatment option. Targeting the single-nucleotide keratin 6a (K6a) N171K mutation responsible for the rare monogenic skin disorder pachyonychia congenita (PC), we demonstrate that small interfering RNAs (siRNAs) can potently and selectively block expression of mutant K6a. To test whether lead siRNAs could discriminate mutant mRNA in the presence of both wild-type and mutant forms, a dominant-negative PC cell culture model was developed. As predicted for a dominant-negative disease, simultaneous expression of both wild-type and mutant K6a resulted in defective keratin filament formation. Addition of mutant-specific siRNAs allowed normal filament formation, suggesting selective inhibition of mutant K6a. The effectiveness of our siRNA in skin was tested by co-delivering a firefly luciferase/mutant K6a bicistronic reporter construct and mutant-specific siRNAs to mouse footpads. Potent inhibition of the fluorescent reporter was demonstrated using the Xenogen IVIS200 in vivo imaging system. Additionally, wild type-specific siRNAs knocked down the expression of pre-existing endogenous K6a in human keratinocytes. These results suggest that efficient delivery of these "designer siRNAs" may allow effective treatment of numerous genetic disorders including PC.  (+info)

Therapeutic interference: a step closer for pachyonychia congenita? (5/27)

The identification of mutations in keratin genes as the cause of several inherited skin disorders raised the possibility that molecular-based therapies might be developed to treat these conditions. In this issue, Smith et al. (2007) have identified small interfering RNAs that specifically and potently silence keratin 6a expression. These molecules have great promise as therapeutic agents for the treatment of pachyonychia congenita.  (+info)

Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. (6/27)

 (+info)

Hedgehog signaling, keratin 6 induction, and sebaceous gland morphogenesis: implications for pachyonychia congenita and related conditions. (7/27)

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Pachyonychia congenita tarda affecting only the nails. (8/27)

A 42-year-old woman presented with complaints of rapidly progressing thickening and yellowish discoloration of the nails for the past 24 months. All nails were affected and fingernails were more thickened than toenails. Her palms and soles were normal. Keratosis pilaris, palmoplantar blistering, hyperhidrosis, leukokeratosis, alopecia, dental malformation, corneal abnormalities and epidermoid cysts were absent. This patient has pachyonychia congenita tarda with clinical manifestations limited to nail involvement.  (+info)

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.

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-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.

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.

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.

Keratin-1

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.

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.

Darier Disease is a genetic skin disorder, also known as Keratosis Follicularis. It is characterized by the formation of greasy, crusted, keratotic papules and plaques that typically appear on the upper arms, torso, and scalp. The lesions may also affect the nasolabial folds, central face, and mucous membranes. Darier Disease is caused by mutations in the ATP2A2 gene, which encodes a calcium pump protein involved in keratinization. It is an autosomal dominant disorder, meaning that a person has a 50% chance of inheriting the disease if one of their parents is affected. The onset of symptoms typically occurs during adolescence or early adulthood. Treatment options include topical medications, oral retinoids, and photodynamic therapy.

The eyebrows are a set of hairs that grow above the eyes on the forehead. They are an important feature of human facial anatomy, and play several roles in non-verbal communication and self-expression. Eyebrows help to prevent sweat and other moisture from dripping into the eyes, and also serve as a protective barrier against dirt, dust, and other foreign particles that might otherwise irritate or damage the eyes.

In addition, eyebrows play an important role in human social interaction and communication. They can convey a range of emotions and facial expressions, such as surprise, anger, fear, happiness, and sadness. Eyebrows can also help to frame the eyes and enhance their appearance, making them an important aspect of personal grooming and beauty.

The eyebrows are made up of several components, including hair follicles, sebaceous glands, and muscles that control their movement. The hairs themselves are composed of a protein called keratin, which also makes up the hair on the head, as well as nails and skin. The color and thickness of eyebrow hair can vary widely from person to person, and may be influenced by factors such as age, genetics, and hormonal changes.

In medical terms, changes in the appearance or condition of the eyebrows can sometimes be a sign of underlying health issues. For example, thinning or loss of eyebrows can be associated with conditions such as alopecia, thyroid disorders, or nutritional deficiencies. Changes in eyebrow shape or position can also be a symptom of certain neurological conditions, such as Bell's palsy or stroke. As such, any significant changes in the appearance or condition of the eyebrows should be evaluated by a healthcare professional to rule out any underlying medical causes.

Myotonia Congenita is a genetic muscle disorder characterized by delayed relaxation after voluntary muscle contraction, leading to stiffness or difficulty in relaxing the muscles following use. This muscle stiffness is called myotonia and can be aggravated by voluntary muscle action, such as handgrip or walking, and also occurs after periods of rest.

There are two main forms of Myotonia Congenita: Thomsen's disease (autosomal dominant inheritance) and Becker's disease (autosomal recessive inheritance). The disorder is caused by mutations in the CLCN1 gene, which encodes a chloride channel that helps regulate muscle excitability.

Myotonia Congenita primarily affects skeletal muscles, causing stiffness and cramping, but it does not typically affect muscle strength or size. Symptoms usually begin in childhood and may improve with repeated muscle use (warm-up phenomenon). Treatment options include medication to reduce muscle stiffness and physical therapy to maintain muscle flexibility and strength.

Dyskeratosis congenita is a rare genetic disorder that affects the bone marrow's ability to produce blood cells and can also affect other parts of the body, such as the skin, nails, and mucous membranes. It is characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia (white patches) in the mouth. People with dyskeratosis congenita are also at an increased risk of developing bone marrow failure, cancer, and pulmonary fibrosis. The disorder is caused by mutations in genes involved in the maintenance of telomeres, which are the protective caps on the ends of chromosomes that shorten as cells divide. These mutations can lead to premature shortening of telomeres and cellular aging, resulting in the symptoms of dyskeratosis congenita.

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.

Glossitis is a medical term that refers to inflammation of the tongue. This condition can cause symptoms such as swelling, redness, pain, and smoothness or discoloration of the tongue's surface. Glossitis can have various causes, including nutritional deficiencies (such as vitamin B12 or folate deficiency), allergic reactions, infections (bacterial, viral, or fungal), irritants (such as hot and spicy foods, alcohol, or tobacco), and autoimmune disorders (such as pemphigus vulgaris or lichen planus). Treatment for glossitis depends on the underlying cause.

In the context of medical terminology, "nails" primarily refer to the keratinous plates that are found at the tips of fingers and toes. These specialized structures are part of the outermost layer of the skin (epidermis) and are formed by a type of cells called keratinocytes. The nails serve to protect the delicate underlying tissues from trauma, and they also aid in tasks such as picking up small objects or scratching itches.

The medical term for fingernails and toenails is "unguis," which comes from Latin. Each nail consists of several parts:

1. Nail plate: The visible part of the nail that is hard and flat, made up of keratin.
2. Nail bed: The skin beneath the nail plate to which the nail plate is attached; it supplies blood to the nail.
3. Matrix: The area where new cells are produced for the growth of the nail plate; located under the cuticle and extends slightly onto the finger or toe.
4. Lunula: The crescent-shaped white area at the base of the nail plate, which is the visible portion of the matrix.
5. Cuticle: The thin layer of skin that overlaps the nail plate and protects the underlying tissue from infection.
6. Eponychium: The fold of skin that surrounds and covers the nail plate; also known as the "proximal nail fold."
7. Hyponychium: The area of skin between the free edge of the nail plate and the fingertip or toe tip.
8. Perionychiun: The skin surrounding the nail on all sides.

Understanding the anatomy and medical aspects of nails is essential for healthcare professionals, as various conditions can affect nail health, such as fungal infections, ingrown nails, or tumors.

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.

Type II keratins are a group of intermediate filament proteins that are primarily expressed in epithelial cells. They are part of the keratin family, which is divided into two types (Type I and Type II) based on their acidic or basic isoelectric point. Type II keratins have a basic isoelectric point and include several subtypes such as KRT2, KRT3, KRT4, KRT10, KRT12, and others.

Type II keratins form heteropolymers with Type I keratins to provide structural support and integrity to epithelial cells. They are essential for the maintenance of cell shape, polarity, and mechanical resistance to stress. Mutations in type II keratin genes have been associated with several human genetic disorders, including epidermolysis bullosa simplex, a blistering skin disorder, and some forms of hair loss.

In summary, Type II keratins are a group of basic intermediate filament proteins that form heteropolymers with Type I keratins to provide structural support and integrity to epithelial cells.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Arthrogryposis is a medical term that describes a condition characterized by the presence of multiple joint contractures at birth. A contracture occurs when the range of motion in a joint is limited, making it difficult or impossible to move the joint through its full range of motion. In arthrogryposis, these contractures are present in two or more areas of the body.

The term "arthrogryposis" comes from two Greek words: "arthro," meaning joint, and "gyros," meaning curved or bent. Therefore, arthrogryposis literally means "curving of the joints."

There are many different types of arthrogryposis, each with its own specific set of symptoms and causes. However, in general, arthrogryposis is caused by decreased fetal movement during pregnancy, which can be due to a variety of factors such as genetic mutations, nervous system abnormalities, or environmental factors that restrict fetal movement.

Treatment for arthrogryposis typically involves a combination of physical therapy, bracing, and surgery to help improve joint mobility and function. The prognosis for individuals with arthrogryposis varies depending on the severity and type of contractures present, as well as the underlying cause of the condition.

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.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita OMIM: 260130 Pachyonychia congenita recessive at NIH's Office of Rare ... 569 Pachyonychia congenita type II (also known as "Jackson-Lawler pachyonychia congenita" and "Jackson-Sertoli syndrome") is an ... "What Is Pachyonychia Congenita?". www.pachyonychia.org. Retrieved 2018-08-01. McLean W, Rugg E, Lunny D, Morley S, Lane E, ... Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain. Pachyonychia ...
The Pachyonychia Congenita Quality of Life (PCQoL) was developed in 2012 to determine the effect Pachyonychia Congenita has on ... A Quality of Life Assessment Measure for Pachyonychia Congenita". Journal of Cutaneous Medicine and Surgery. 19 (1): 57-65. doi ...
Pachyonychia congenita is a rare type of genodermatosis, its clinical manifestations are abnormal enlargement of fingernails or ... There is no radical therapeutic method for pachyonychia congenita, but some care can ease the symptoms. Patients can polish and ... Between 5000 and 10000 people in the world have pachyonychia congenita. Epidermolytic palmoplantar keratoderma often appears at ... National Organization for Rare Disorders (NORD). (2018). Pachyonychia Congenita. Retrieved from [1] O'Neill, M. J. (2013, May ...
"Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium Meeting". Br. J. ... "What Is Pachyonychia Congenita?". pachyonychia.org. Archived from the original on 2013-11-27. Retrieved 2014-10-05. (Genes on ... This has been identified as a form of Pachyonychia congenita. GRCh38: Ensembl release 89: ENSG00000170465 - Ensembl, May 2017 " ... "Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting". J. Invest. Dermatol. 134 (3): 588-91. doi: ...
Pachyonychia congenita is caused by multiple keratins. Focal dermal hypoplasia is associated with PORCN. Ellis-van Creveld ...
Mutations in the genes expressing this protein is associated with the PC-K6A subtype of pachyonychia congenita, an inherited ... GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita GRCh38: Ensembl release 89: ENSG00000205420 - Ensembl, May 2017 "Human ... in pachyonychia congenita". Nat. Genet. 10 (3): 363-5. doi:10.1038/ng0795-363. PMID 7545493. S2CID 26060130. Smith FJ, Jonkman ... "A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2". Hum. Mol. Genet. 7 (7 ...
Munro CS, Carter S, Bryce S, Hall M, Rees JL, Kunkeler L, Stephenson A, Strachan T (1995). "A gene for pachyonychia congenita ... Mutations in the gene encoding this protein lead to PC-K17 (previously known as Jackson-Lawler) type pachyonychia congenita and ... GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita v t e (Articles with short description, Short description matches ... "A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2". J. Invest. Dermatol. 118 (3 ...
... is associated with the PC-K6B subtype of pachyonychia congenita. McLean WH, Rugg EL, Lunny DP, et al. (March 1995 ... GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita v t e (Protein pages needing a picture, Genes on human chromosome 12, ... July 1998). "A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2". Hum. Mol ... Mutations in the gene encoding this protein have been associated with pachyonychia congenita, an inherited disorder of the ...
2001). "Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16". Br. J. ... 2008). "Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a ... GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita Liao H, Sayers JM, Wilson NJ, et al. (2007). "A spectrum of mutations ... 2001). "Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita". J ...
A Unilateral palmoplantar verrucous nevus is a cutaneous condition that has features of pachyonychia congenita. Unilateral ...
... hyperhidrosis and pachyonychia congenita. Nevus Sebaceous of Jadassohn: yellow-orange flat plaque, occurring most commonly on ...
1997). "Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma ... Pamoukian VN, Westreich M (1997). "Five generations with steatocystoma multiplex congenita: a treatment regimen". Plast. ...
... and pachyonychia congenita. Type I keratin Schweizer, Jürgen; Bowden, Paul E.; Coulombe, Pierre A.; Langbein, Lutz; Lane, E. ...
... is an autosomal dominant keratoderma that represents a clinical overlap syndrome with pachyonychia congenita type I but without ...
... including pachyonychia congenita, muscular dystrophy with epidermolysis bullosa simplex and Meesmann corneal dystrophy. His ...
Types include:[citation needed] Palmoplantar ectodermal dysplasia type 1 or Pachyonychia congenita type I Palmoplantar ...
... a brain landmark commonly used in biomedical image processing Pubococcygeus muscle Parietal cell Pachyonychia congenita, a ...
I J K L M N O P Q R S T U V W X Y Z See also Health Exercise Nutrition Pachydermoperiostosis Pachygyria Pachyonychia congenita ... Paraganglioma Parainfluenza virus type 3 antenatal infection Paramyotonia congenita of von Eulenburg Paramyotonia congenita ...
... syndrome Focal palmoplantar keratoderma Papillon-Lefèvre syndrome Pachyonychia congenita type I Pachyonychia congenita type II ...
Pachyonychia congenita type I (Jadassohn-Lewandowsky syndrome) Pachyonychia congenita type II (Jackson-Lawler pachyonychia ... ichthyosis congenita, ichthyosis congenita gravior) Hay-Wells syndrome (AEC syndrome, ankyloblepharon filiforme adnatum- ... Aplasia cutis congenita (cutis aplasia, congenital absence of skin, congenital scars) Arteriovenous fistula Benign neonatal ... alopecia congenita with keratosis palmoplantaris, Clouston syndrome, Clouston's hidrotic ectodermal dysplasia, Fischer-Jacobsen ...
EIF2B5 Pachyonychia congenita Jackson Lawler type; 167210; KRT17 Pachyonychia congenita Jackson Lawler type; 167210; KRT6B ... Pachyonychia congenita, Jadassohn-Lewandowsky type; 167200; KRT16 Pachyonychia congenita, Jadassohn-Lewandowsky type; 167200; ... GATA1 Dyskeratosis congenita; 127550; TERT Dyskeratosis congenita; 224230; NOLA2 Dyskeratosis congenita, autosomal dominant; ... SLC2A10 Arthrogryposis multiplex congenita, distal type 1; 108120; TPM2 Arthrogryposis multiplex congenita, distal type 2B; ...
Find symptoms and other information about Pachyonychia congenita. ... Pachyonychia congenita (PC) is a rare inherited condition that ... Pachyonychia congenita is a genetic disease. This means that one or more genes have differences that prevent them from working ... When Do Symptoms of Pachyonychia congenita Begin?. Symptoms of this disease may start to appear at any time in life.. The age ... Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and ...
GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita OMIM: 260130 Pachyonychia congenita recessive at NIHs Office of Rare ... 569 Pachyonychia congenita type II (also known as "Jackson-Lawler pachyonychia congenita" and "Jackson-Sertoli syndrome") is an ... "What Is Pachyonychia Congenita?". www.pachyonychia.org. Retrieved 2018-08-01. McLean W, Rugg E, Lunny D, Morley S, Lane E, ... Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain. Pachyonychia ...
Pachyonychia congenita is a condition that primarily affects the skin and nails. Explore symptoms, inheritance, genetics of ... Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium Meeting. Br J ... medlineplus.gov/genetics/condition/pachyonychia-congenita/ Pachyonychia congenita. ... Some babies and children with pachyonychia congenita have pain in one or both ears when beginning to eat or drink. Pachyonychia ...
Pachyonychia congenita is a rare genodermatosis due to mutations in one of 4 keratin genes. It is characterized by dystrophic, ... encoded search term (Pachyonychia Congenita) and Pachyonychia Congenita What to Read Next on Medscape ... Pachyonychia Congenita Differential Diagnoses. Updated: Feb 08, 2019 * Author: Saira J George, MD; Chief Editor: William D ... Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation. Br J ...
Pachyonychia congenitas is a rare disorder causing thick nails & painful calluses on the bottoms of the feet & more. Learn the ... Research Progress Related to Pachyonychia Congenita. Investigators at the National Institutes of Health and other research ...
Pachyonychia congenita ... Testing Registry: Pachyonychia congenita 1 Genetic Testing Registry: Pachyonychia congenita 2 ... A novel mutation in K6b in pachyonychia congenita type 2. J Invest Dermatol. 2007 Aug;127(8):2060- ... K6b produces a phenocopy ... The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol. 2014 Aug;171(2):343-55. ... The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol. 2014 Aug;171(2):343-55. ...
Pachyonychia congenita is inherited in an autosomal dominant manner. Approximately 30% of cases appear to be caused by a ,i,de ... Pachyonychia Congenita Frances JD Smith 1 , C David Hansen 2 , Peter R Hull 3 , Roger L Kaspar 4 , WH Irwin McLean 5 , Edel ... Generalized bullae in a young girl with KRT6A-related pachyonychia congenita. Liu J, Zhong W, Yu B, Lin Z, Zheng Y, Hu X. Liu J ... Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients. Forrest CE, Casey G, Mordaunt DA, Thompson EM, ...
Pachyonychia congenita is a rare genodermatosis due to mutations in one of 4 keratin genes. It is characterized by dystrophic, ... encoded search term (Pachyonychia Congenita) and Pachyonychia Congenita What to Read Next on Medscape ... Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation. Br J ... Pachyonychia congenita: surgical management of the nail changes. J Dermatol Surg Oncol. 1982 Jan. 8(1):24-8. [QxMD MEDLINE Link ...
This resource contains general information about pachyonychia congenita. It describes symptoms and causes, as well as ... This resource contains general information about pachyonychia congenita. It describes symptoms and causes, as well as ... and other strategies for living with pachyonychia congenita. ... and other strategies for living with pachyonychia congenita. ...
... Project is a 501(c)(3) under federal tax guidelines. Using this site means you accept its terms as ... There are many ways you can help improve the lives of those who suffer from Pachyonychia Congenita. ... Pachyonychia Congenita * * *What Is Pachyonychia Congenita? *Could I Have PC?. *Getting Diagnosed ...
Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar ... Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay Olivier Duverger 1 , ... Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay Olivier Duverger et al. ... Revisiting pachyonychia congenita: a case-cohort study of 815 patients. Samuelov L, Smith FJD, Hansen CD, Sprecher E. Samuelov ...
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h ...
Pachyonychia congenita is a rare genodermatosis due to mutations in one of 4 keratin genes. It is characterized by dystrophic, ... encoded search term (Pachyonychia Congenita) and Pachyonychia Congenita What to Read Next on Medscape ... Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation. Br J ... Pachyonychia congenita: surgical management of the nail changes. J Dermatol Surg Oncol. 1982 Jan. 8(1):24-8. [QxMD MEDLINE Link ...
"Pachyonychia Congenita." Pachyonychia Congenita , DermNet NZ, https://dermnetnz.org/topics/pachyonychia-congenita. ... Pachyonychia congenita. 27 April، 2022. /in Articles, Students Club/by Editorial Team. Pachyonychia congenita is a rare ... What is the cause of pachyonychia congenita?. The disorder is caused by a genetic mutation but features vary depending on the ... What are the clinical features of pachyonychia congenita?. Clinical features vary based on the involved keratin gene and ...
In this study we report the establishment of two different skin-humanized pachyonychia congenita (PC) model systems, based on ...
Would you know a case of pachyonychia congenital if it stared in your face? ... Table 1. Types of Pachyonychia Congenital Pachyonychia Congenita Type 1, Jadassohn-Lewandowsky Type. ... Pachyonychia Congenita Type 2, Jackson-Lawler Type. *. Main features: Natal teeth, steatocystoma multiplex, epidermoid cysts, ... Cite this: Hereditary Palmoplantar Keratoderma: A Rare Case Report-Pachyonychia Congenita - Medscape - Nov 01, 2009. ...
Pachyonychia Congenita. Nails/abnormalities Nails, Malformed. PHEX Phosphate Regulating Neutral Endopeptidase/deficiency ...
Pachyonychia congenita. Arch Dermatol. 1991 Jan. 127 (1):113-4, 116-7. [QxMD MEDLINE Link]. ... Botulinum toxin: Injection of botulinum toxin into the plantar area of two patients with pachyonychia congenita has been ... Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases. Dermatol Ther. 2016 Jan-Feb. 29 (1):32-6 ...
Successful treatment of Pachyonychia congenita with Rosuvastatin. Frommherz L, et al. J Eur Acad Dermatol Venereol. 2020. PMID ... Scrutinising the role of simvastatin in a patient of Pachyonychia Congenita with KRT6A gene mutation. Sharma S, et al. ...
Pachyonychia Congenita (National Institute of Arthritis and Musculoskeletal and Skin Diseases). *Pemphigus (National Institute ...
Pachyonychia Congenita (PC1, PC2) Steatocystoma Multiplex (SM) Focal Palmoplantar Keratoderma (FPPK) Monilethrix. Other ...
Pachyonychia Congenita/complications; Pachyonychia Congenita/genetics*; Pain/genetics; RNA, Messenger/analysis*; Transcriptome ... Abstract: Pachyonychia congenita (PC) is a skin disorder resulting from mutations in keratin (K) proteins including K6a, K6b, ... Title: Gene expression profiling in pachyonychia congenita skin.. Authors: Cao, Yu-An; Hickerson, Robyn P; Seegmiller, Brandon ...
9. Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.. Kerns ML; Hakim JM; Lu RG; Guo Y; ...
Gene expression profiling in pachyonychia congenita skin. J Dermatol Sci 77(3):156-165. doi:10.1016/j.jdermsci.2015.01.001 PMID ...
A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a. Br J Dermatol 152:800-802. ... 2000). A mutation in keratin 6a has been shown to be involved in some cases of pachyonychia congenita types 1 and 2 (Garcia-Rio ... Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita ...
such as pachyonychia congenita) *. Drugs Effect of drugs on nails The terms deformities and dystrophies are often used ...
Pachyonychia Congenita 1 0 Note: The number of publications displayed in this table will differ from the number displayed in ...
Pachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad ...
Klein serves on the Board of the PC Project, a charity dedicated to finding a cure for Pachyonychia Congenita, and the American ...
  • 510 : 569 Pachyonychia congenita type II (also known as "Jackson-Lawler pachyonychia congenita" and "Jackson-Sertoli syndrome") is an autosomal dominant keratoderma presenting with a limited focal plantar keratoderma that may be very minor, with nails changes that may be evident at birth, but more commonly develop within the first few months of life. (wikipedia.org)
  • [ 4 ] Pachyonychia congenita type 2, or the Jackson-Lawler type (MIM entry 167210), was attributed to mutations in keratin 6B (KRT6B) or keratin 17 (KRT17) and could be distinguished from type 1 by the development of natal teeth, widespread steatocystomas, and occasionally pili torti. (medscape.com)
  • Clementi M, Cardin de Stefani E, Dei Rossi C, Avventi V, Tenconi R. Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome. (medscape.com)
  • Missense mutations in the helix boundary motifs of this protein have been found in a number of pedigrees of patients with familial steatocystoma multiplex as well as pachyonychia congenital type 2 (Jackson-Lawler syndrome) [ 2 , 3 ]. (escholarship.org)
  • 510 Pachyonychia congenita type I (also known as "Jadassohn-Lewandowsky syndrome") is an autosomal dominant keratoderma that principally involves the plantar surfaces, but also with nails changes that may be evident at birth, but more commonly develop within the first few months of life. (wikipedia.org)
  • Natal teeth are also associated with congenital disorders like Hallermann-Streiff syndrome, jadassohn-lewandowsky syndrome (pachyonychia congenita), craniofacial dysostosis syndrome, steatocystoma multiplex, Wiedemann-Rautenstrauch syndrome and Pierre Robin syndrome. (wikifarming.org)
  • Pachyonychia congenita (often abbreviated as "PC") is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. (wikipedia.org)
  • Pachyonychia congenita follows an autosomal dominant pattern of inheritance, which means the defective gene is located on an autosome, and only one copy of the gene is required to inherit the disorder from a parent who has the disorder. (wikipedia.org)
  • A genetic counselor should inform the carrier that this gene has an autosomal dominant inheritance pattern and that pachyonychia congenita can affect half of his or her progeny. (medscape.com)
  • Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by nail dystrophy, focal non-epidermolytic palmoplantar keratoderma (FNEPPK) and oral lesions. (ncl.ac.uk)
  • In this review, we have discussed the keratinization that occurs in the stratum corneum that follows mutation in the keratin gene "rare disease" pachyonychia congenital an autosomal dominant disorder or hereditary syndrome by any one of a missense mutation in keratin genes such as KRT6A, KRT6B, KRT16 and KRT17. (ijpsr.com)
  • 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)
  • Inheritance Chong-Hai and Rajagopalan (1977) suggested autosomal recessive inheritance of pachyonychia congenita in a 4-year-old Malaysian girl with first-cousin parents, although they recognized new dominant mutation as a possibility. (findzebra.com)
  • Type II pachyonychia congenital or type II keratin (k1-k8) keratin gene with chromosomal loci that were clustered and has been located on 12q11q-14. (ijpsr.com)
  • 4] Other names and synonyms of this condition are called congenital dyskeratosis and pachyonychia ichthyosiformis. (faoj.org)
  • The condition can also be linked to Ellis-van Creveld syndrome (chondroectodermal dysplasia), pachyonychia congenita, and Hallermann-Streiff syndrome. (chkd.org)
  • These conditions include Unna-Thost disease, Vohwinkel's syndrome, Papillon-Lefèvre syndrome and pachyonychia congenita. (faoj.org)
  • Pachyonychia congenita is a rare genodermatosis due to mutations in one of four keratin genes. (medscape.com)
  • Pachyonychia congenita type 1, or the Jadassohn-Lewandowsky type (Mendelian Inheritance in Man (MIM entry 167200), was attributed to mutations in genes encoding keratin 6A (KRT6A) or keratin 16 (KRT16) and constituted the most common form of the disorder. (medscape.com)
  • [ 5 , 6 ] have provided a clearer picture of the disease and reveal a spectrum of overlapping clinical features that can be correlated genotypically to the specific mutations in patients with pachyonychia congenita. (medscape.com)
  • The mutations in pachyonychia congenita are found in the genes encoding keratin 6A (KRT6A), keratin 16 (KRT16), keratin 6B (KRT6B), and keratin 17 (KRT17). (medscape.com)
  • As with most other keratin disorders, most mutations in pachyonychia congenita occur in these highly conserved helix boundary domains at the end of the rod domain. (medscape.com)
  • Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (medscape.com)
  • Pachyonychia congenita: mutations and clinical presentations. (medscape.com)
  • Pachyonychia congenita (PC) is a rare disease caused by changes (mutations) in different genes coding for keratins (a type of proteins) expressed in keratinocyte (type of cells found in the outermost layer of the skin). (europa.eu)
  • Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. (escholarship.org)
  • Later epidermolytic palmoplantar keratoderma and pachyonychia congenita, white sponge naevus and very recently monilethrix and a phenotype resembling steatocystoma multiplex were elucidated. (coek.info)
  • Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. (findzebra.com)
  • Eruptive vellus hair cyst and steatocystoma multiplex in a patient with pachyonychia congenita. (medscape.com)
  • 3] Pachyonychia congenita (PC) is a rare genodermatosis that affects the nails of all the toes and fingers. (faoj.org)
  • Pachyonychia Congenita (PC) is a ultra rare skin disorder characterized by painful calluses and blisters on the soles of the feet, thickened nails and cysts. (giveasyoulive.com)
  • Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. (findzebra.com)
  • citation needed] ILDS: Q84.520 ICD-10: Q84.5 Pachyonychia congenita consists of five sub-types, each named after its corresponding genetic mutation and each associated with distinguishing clinical features: PC-K6a is caused by a mutation in the KRT6A gene and more often associated with oral leukokeratosis and poor feeding in infants. (wikipedia.org)
  • The genetic basis of pachyonychia congenita. (medscape.com)
  • 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. (findzebra.com)
  • 1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. (findzebra.com)
  • 569 In order to clinically diagnose pachyonychia congenita, the clinical triad of toenail thickening, plantar keratoderma, and plantar pain must be present. (wikipedia.org)
  • Pachyonychia congenita can be suspected in patients who do not have the complete clinical triad but who exhibit other symptoms such as cysts, oral leukokeratosis, follicular hyperkeratosis, palmoplantar hyperhidrosis, or natal teeth. (wikipedia.org)
  • A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. (medscape.com)
  • Clinical and pathological features of pachyonychia congenita. (medscape.com)
  • Su WP, Chun SI, Hammond DE, Gordon H. Pachyonychia congenita: a clinical study of 12 cases and review of the literature. (medscape.com)
  • No clinical trials with the medicine in patients with pachyonychia congenita had been started. (europa.eu)
  • A number sign (#) is used with this entry because pachyonychia congenita-4 (PC4) is caused by heterozygous mutation in the KRT6B gene (148042) on chromosome 12q13. (findzebra.com)
  • Type I pachyonychia congenita or type I keratin (k9-k20) keratin gene with two chromosomal loci that were clustered on 17q12 and q21 chromosomes. (ijpsr.com)
  • Patients with pachyonychia congenita often present at birth or soon after with the characteristic hypertrophic toenail dystrophy. (medscape.com)
  • Patients and their relatives should be informed that pachyonychia congenita does not endanger an individual's life, but it may impair his or her quality of life. (medscape.com)
  • Pachyonychia congenita in pediatric patients: natural history, features, and impact. (medscape.com)
  • Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients. (medscape.com)
  • Give as you Live Donate is the easy way to raise funds for Pachyonychia Congenita Project Europe (Scotland) - make direct donations, create Fundraising Pages and much more! (giveasyoulive.com)
  • Hello, Donate to Pachyonychia Congenita Project Europe (Scotland) using Give as you Live Donate and support their amazing work! (giveasyoulive.com)
  • Challenges in developing therapies for rare diseases including pachyonychia congenita. (medscape.com)
  • There are many ways you can help improve the lives of those who suffer from Pachyonychia Congenita. (pachyonychia.org)
  • Treatment of pachyonychia congenita. (medscape.com)
  • Swartling C, Vahlquist A. Treatment of pachyonychia congenita with plantar injections of botulinum toxin. (medscape.com)
  • This medicine was designated as an orphan medicine for the treatment of pachyonychia congenita in the European Union on 18 July 2022. (europa.eu)
  • This review aims to specify the beneficial surgical treatment for the pachyonychia congenita. (ijpsr.com)
  • Pachyonychia Congenita Project is a non-profit dedicated to finding a cure for PC. (wikipedia.org)
  • Pachyonychia Congenita Project is a 501(c)(3) under federal tax guidelines. (pachyonychia.org)
  • It takes just a few steps to create your page supporting Pachyonychia Congenita Project Europe (Scotland). (giveasyoulive.com)
  • Create your Fundraising Page and start raising donations for Pachyonychia Congenita Project Europe (Scotland)! (giveasyoulive.com)
  • Gene expression profiling in pachyonychia congenita skin. (ucdenver.edu)
  • Pachyonychia congenita is not a lifetime disease. (ijpsr.com)
  • There is currently no cure for pachyonychia congenita. (wikipedia.org)