Hyperkeratosis, Epidermolytic
Keratoderma, Palmoplantar
Keratoderma, Palmoplantar, Epidermolytic
Keratin-9
Keratin-1
Keratoderma, Palmoplantar, Diffuse
Exfoliatins
Keratin-10
Keratins
Nails, Malformed
Pachyonychia Congenita
Ichthyosis
Keratin-16
Papillon-Lefevre Disease
Parakeratosis
Pedigree
Desmoplakins
Dermotoxins
Hand Dermatoses
Keratolytic Agents
Skin
Epidermis
Stevens-Johnson Syndrome
Desmoglein 1
Keratin-6
Keratin-17
Cathepsin C
Ointment Bases
Toxins, Biological
Ectodermal Dysplasia
Petrolatum
Sternocostal Joints
Mutation
Acquired Hyperostosis Syndrome
Psoriasis
Skin Diseases, Genetic
Porokeratosis
Frameshift Mutation
Desmosomes
Phenotype
Skin Diseases
Connexins
Arrhythmogenic Right Ventricular Dysplasia
Acitretin
Staphylococcus aureus
Hyperhidrosis
Sternoclavicular Joint
Hyperpigmentation
Genes, Dominant
Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. (1/6)
(+info)Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. (2/6)
(+info)The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees. (3/6)
(+info)Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder. (4/6)
(+info)Targeting the palm: a leap forward toward treatment of keratin disorders. (5/6)
(+info)Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis. (6/6)
(+info)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.
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.
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.
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.
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.
I'm sorry for any confusion, but "Exfoliatins" is not a recognized medical term or a known medical condition. It seems like there might be a spelling mistake or a mix-up with the terminology. Exfoliation refers to the natural process of shedding dead skin cells from the surface of the skin. If you have any specific concerns about skin issues or other health problems, I would recommend consulting a healthcare professional for accurate information and advice tailored to your situation.
Keratin-10 is a type II keratin protein that is primarily expressed in the differentiated layers of stratified squamous epithelia, including the skin's epidermis. It plays a crucial role in providing structural support and protection to these epithelial tissues. Keratin-10 pairs with keratin-1 to form intermediate filaments, which are essential for maintaining the integrity and stability of epithelial cells. The expression of keratin-10 is often used as a marker for terminal differentiation in epidermal keratinocytes.
An acanthoma is a benign skin tumor characterized by the proliferation of epidermal cells, specifically the pickle cell layer (stratum spinosum). The term "acanthoma" comes from the Greek word "akantha," which means "thorn" or "spine."
There are several types of acanthomas, including:
1. Seborrheic keratosis: Also known as seborrheic warts, these are common benign growths that appear as rough, scaly patches on the skin. They can be tan, brown, or black and may have a waxy or greasy appearance.
2. Benign lichenoid keratosis: These are small, flat lesions with a scaly surface that typically occur on sun-exposed areas of the skin. They are usually asymptomatic but may occasionally itch.
3. Psoriasiform acanthoma: This is a rare type of acanthoma that resembles psoriasis, a chronic skin condition characterized by red, scaly patches.
4. Clear cell acanthoma: This is a distinctive type of acanthoma that appears as a solitary, dome-shaped nodule with a smooth surface and a central crust. It typically occurs on the lower legs of older adults.
Acanthomas are generally harmless and do not require treatment unless they become irritated or unsightly. In such cases, they can be removed through various methods, including cryosurgery (freezing), curettage (scraping), or excision (cutting).
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.
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.
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.
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.
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.
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.
Dermatotoxins are substances that can cause damage or irritation to the skin. They are typically toxic chemicals or venoms that can produce a range of reactions when they come into contact with the skin, such as redness, swelling, itching, blistering, and necrosis (tissue death).
Dermatotoxins can be found in various sources, including certain plants, animals, and synthetic compounds. For example, some snakes and insects produce venoms that contain dermatotoxic components, while certain chemicals used in industrial processes or agricultural applications can also have dermatotoxic effects.
Exposure to dermatotoxins can occur through various routes, such as direct contact with the skin, inhalation, or ingestion. In some cases, dermatotoxins can cause systemic effects if they are absorbed into the bloodstream through the skin.
If you suspect exposure to a dermatotoxin, it is important to seek medical attention promptly. Treatment may include washing the affected area with soap and water, applying topical creams or ointments, and in some cases, administering antivenom or other medications to counteract the toxic effects.
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.
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.
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.
Stevens-Johnson Syndrome (SJS) is a rare, serious and potentially life-threatening skin reaction that usually occurs as a reaction to medication but can also be caused by an infection. SJS is characterized by the detachment of the epidermis (top layer of the skin) from the dermis (the layer underneath). It primarily affects the mucous membranes, such as those lining the eyes, mouth, throat, and genitals, causing painful raw areas that are prone to infection.
SJS is considered a severe form of erythema multiforme (EM), another skin condition, but it's much more serious and can be fatal. The symptoms of SJS include flu-like symptoms such as fever, sore throat, and fatigue, followed by a red or purplish rash that spreads and blisters, eventually leading to the detachment of the top layer of skin.
The exact cause of Stevens-Johnson Syndrome is not always known, but it's often triggered by medications such as antibiotics, anti-convulsants, nonsteroidal anti-inflammatory drugs (NSAIDs), and antiretroviral drugs. Infections caused by herpes simplex virus or Mycoplasma pneumoniae can also trigger SJS.
Treatment for Stevens-Johnson Syndrome typically involves hospitalization, supportive care, wound care, and medication to manage pain and prevent infection. Discontinuing the offending medication is crucial in managing this condition. In severe cases, patients may require treatment in a burn unit or intensive care unit.
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).
Biological toxins are poisonous substances that are produced by living organisms such as bacteria, plants, and animals. They can cause harm to humans, animals, or the environment. Biological toxins can be classified into different categories based on their mode of action, such as neurotoxins (affecting the nervous system), cytotoxins (damaging cells), and enterotoxins (causing intestinal damage).
Examples of biological toxins include botulinum toxin produced by Clostridium botulinum bacteria, tetanus toxin produced by Clostridium tetani bacteria, ricin toxin from the castor bean plant, and saxitoxin produced by certain types of marine algae.
Biological toxins can cause a range of symptoms depending on the type and amount of toxin ingested or exposed to, as well as the route of exposure (e.g., inhalation, ingestion, skin contact). They can cause illnesses ranging from mild to severe, and some can be fatal if not treated promptly and effectively.
Prevention and control measures for biological toxins include good hygiene practices, vaccination against certain toxin-producing bacteria, avoidance of contaminated food or water sources, and personal protective equipment (PPE) when handling or working with potential sources of toxins.
The scrotum is a part of the external male genitalia. It's a sac-like structure made up of several layers of skin and smooth muscle, which hangs down behind and beneath the penis. The primary function of the scrotum is to maintain the testicles at a temperature slightly lower than the core body temperature, which is optimal for sperm production.
The scrotum contains two compartments, each one housing a testicle. It's located in the pubic region and is usually visible externally. The skin of the scrotum is thin and wrinkled, which allows it to expand and contract depending on the temperature, accommodating the shrinking or swelling of the testicles.
Please note that while I strive to provide accurate information, this definition is intended to be a general overview and should not replace professional medical advice.
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.
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.
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.
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.
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.
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.
Staphylococcus aureus is a type of gram-positive, round (coccal) bacterium that is commonly found on the skin and mucous membranes of warm-blooded animals and humans. It is a facultative anaerobe, which means it can grow in the presence or absence of oxygen.
Staphylococcus aureus is known to cause a wide range of infections, from mild skin infections such as pimples, impetigo, and furuncles (boils) to more severe and potentially life-threatening infections such as pneumonia, endocarditis, osteomyelitis, and sepsis. It can also cause food poisoning and toxic shock syndrome.
The bacterium is often resistant to multiple antibiotics, including methicillin, which has led to the emergence of methicillin-resistant Staphylococcus aureus (MRSA) strains that are difficult to treat. Proper hand hygiene and infection control practices are critical in preventing the spread of Staphylococcus aureus and MRSA.
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.
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.
List of OMIM disorder codes
Small interfering RNA
Keratin 9
Desmoplakin
Palmoplantar keratoderma
Genodermatosis
Knuckle pads
Keratin 16
Woolly hair autosomal recessive
List of diseases (E)
Naxos syndrome
List of MeSH codes (C16)
List of MeSH codes (C17)
Keratoderma
Type II keratin
Howel-Evans syndrome
List of skin conditions
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK | MENDELIAN.CO
List of OMIM disorder codes - Wikipedia
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Hyperkeratosis with palmoplantar2
- Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. (medscape.com)
- Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. (medscape.com)
Nonepidermolytic2
- Howel-Evans syndrome, also known as Clarke-Howel-Evans-McConnell syndrome, is a rare genetic disorder characterized by nonepidermolytic palmoplantar keratoderma (NEPPK), oral leukoplakia, and an increased risk of squamous cell carcinoma of the esophagus. (denguedenguedengue.com)
- There is also a subclass of hereditary diseases defined as either epidermolytic or nonepidermolytic. (faoj.org)
Focal4
- 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)
- 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)
- 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)
- Tylosis with oesophageal cancer is characterised by thickening of the skin of the hands and feet (focal, non-epidermolytic form of palmoplantar keratoderma) associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus (OSCC). (denguedenguedengue.com)
Ichthyosis12
- Epidermolytic ichthyosis presents at birth with erythroderma, blisters, and erosions and evolves over time into varying degrees of hyperkeratosis. (medscape.com)
- Epidermolytic ichthyosis results from heterozygous mutations in the genes encoding keratin 1 ( KRT1 ) and keratin 10 ( KRT10 ). (medscape.com)
- Defects in genes for keratin 1 ( KRT1 ) and 10 ( KRT10 ) are the cause of epidermolytic ichthyosis. (medscape.com)
- Patients with generalized epidermolytic ichthyosis may be born to parents with epidermolytic epidermal nevi (mosaic epidermolytic ichthyosis). (medscape.com)
- If the mutation also involves gonadal cells, which is thought to be more likely in patients with more extensive cutaneous involvement, affected individuals can have offspring with generalized epidermolytic ichthyosis. (medscape.com)
- No racial predilection is apparent for epidermolytic ichthyosis. (medscape.com)
- No sex predilection is recognized for epidermolytic ichthyosis. (medscape.com)
- Epidermolytic ichthyosis is a lifelong condition with an onset at birth or in the neonatal period. (medscape.com)
- Epidermolytic ichthyosis is a lifelong condition. (medscape.com)
- Educate patients with epidermolytic ichthyosis about the potential of passing the genetic defect on to offspring. (medscape.com)
- Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant. (medscape.com)
- Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L. Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. (medscape.com)
Congenital3
- Epidermolytic hyperkeratosis and congenital platelike osteoma cutis in a child. (medscape.com)
- Case presentations describing a congenital variation of palmoplantar keratosis are presented. (faoj.org)
- Conditions characterized by palmoplantar keratosis (PPK) are the most causes of congenital hyperkeratosis. (faoj.org)
NEPPK3
- Genetic Heterogeneity of Palmoplantar KeratodermaNonepidermolytic palmoplantar keratoderma ( NEPPK ) is caused by mutation in the KRT1 gene. (mendelian.co)
- 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)
- 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)
Diffuse1
- Diffuse non-epidermolytic palmoplantar keratoderma.Indian Pediatr. (dermacompass.net)
Pachyonychia congenita3
- Later epidermolytic palmoplantar keratoderma and pachyonychia congenita, white sponge naevus and very recently monilethrix and a phenotype resembling steatocystoma multiplex were elucidated. (coek.info)
- 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)
- Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. (findzebra.com)
Nail dystrophy1
- A rare autosomal dominant disorder that affects the nails and skin is hypertrophic nail dystrophy, oral leukokeratosis, and palm plantar keratoderma. (ijpsr.com)
Cysts1
- This disease shows hypertrophic dystrophy in toenails and fingernails, plantar keratoderma, oral leukokeratosis, cysts, and follicular hyperkeratosis in the hair follicles. (ijpsr.com)
Autosomal dominant2
Keratin8
- [ 10 , 11 ] Epidermal nevi with histologic changes of epidermolytic hyperkeratosis are caused by postzygotic mutations in keratin 1 or keratin 10. (medscape.com)
- Lacz NL, Schwartz RA, Kihiczak G. Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event. (medscape.com)
- A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. (medscape.com)
- A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. (medscape.com)
- Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. (medscape.com)
- A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly. (medscape.com)
- Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. (medscape.com)
- Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis. (medscape.com)
Erythroderma1
- Akhyani M, Kiavash K, Kamyab K. Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis. (medscape.com)
Lesions1
- The symptoms of TOC include thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and white lesions inside the mouth. (denguedenguedengue.com)
Striate1
- Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation. (medscape.com)
Palms and soles1
- 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)
Syndrome1
- Follow this link to review classifications for Palmoplantar keratoderma-esophageal carcinoma syndrome in Orphanet. (nih.gov)
KRT93
- Palmoplantar keratoderma, epidermolytic (sequence analysis of KRT9 gene). (mendelian.co)
- Palmoplantar Keratoderma, Epidermolytic via KRT9 Gene Sequencing with CNV Detection. (mendelian.co)
- KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolyticpalmoplantar keratoderma. (dermacompass.net)
Phenotypic1
- 1994). For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200). (nih.gov)
Scalp1
- Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. (nih.gov)
KRT101
- however, in rare cases, palmoplantar keratoderma may be observed in patients with KRT10 mutations. (medscape.com)
Diagnosis1
- Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. (medscape.com)
Molecular1
- 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)
Group1
- Palmoplantar keratoderma (PPK) is a group of skin conditions characterized by thickening of the skin on the palms of the hands and soles of the feet. (denguedenguedengue.com)
Case1
- Russell P, Valmadre S, Howard V. Localised epidermolytic hyperkeratosis of the vulva: a case of mistaken identity. (medscape.com)