Hyperkeratosis, Epidermolytic
A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.
Keratoderma, Palmoplantar, Epidermolytic
Keratin-10
A type I keratin that is found associated with the KERATIN-1 in terminally differentiated epidermal cells such as those that form the stratum corneum. Mutations in the genes that encode keratin-10 have been associated with HYPERKERATOSIS, EPIDERMOLYTIC.
Keratoderma, Palmoplantar
Exfoliatins
Protein exotoxins from Staphylococcus aureus, phage type II, which cause epidermal necrolysis. They are proteins with a molecular weight of 26,000 to 32,000. They cause a condition variously called scaled skin, Lyell or Ritter syndrome, epidermal exfoliative disease, toxic epidermal necrolysis, etc.
Keratin-1
A type II keratin that is found associated with the KERATIN-10 in terminally differentiated epidermal cells such as those that form the stratum corneum. Mutations in the genes that encode keratin-1 have been associated with HYPERKERATOSIS, EPIDERMOLYTIC.
Keratin-9
A type II keratin found predominantly expressed in the terminally differentiated EPIDERMIS of palms and soles. Mutations in the gene for keratin 9 are associated with KERATODERMA, PALMOPLANTAR, EPIDERMOLYTIC.
Keratins
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.
Skin
The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
Ichthyosis
Dermotoxins
Specific substances elaborated by plants, microorganisms or animals that cause damage to the skin; they may be proteins or other specific factors or substances; constituents of spider, jellyfish or other venoms cause dermonecrosis and certain bacteria synthesize dermolytic agents.
Epidermis
The external, nonvascular layer of the skin. It is made up, from within outward, of five layers of EPITHELIUM: (1) basal layer (stratum basale epidermidis); (2) spinous layer (stratum spinosum epidermidis); (3) granular layer (stratum granulosum epidermidis); (4) clear layer (stratum lucidum epidermidis); and (5) horny layer (stratum corneum epidermidis).
Stevens-Johnson Syndrome
Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.
Toxins, Biological
Scrotum
A cutaneous pouch of skin containing the testicles and spermatic cords.
Papillon-Lefevre Disease
Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.
Pedigree
Keratin-2
A type II keratin found expressed in the upper spinous layer of epidermal KERATINOCYTES. Mutations in genes that encode keratin-2A have been associated with ICHTHYOSIS BULLOSA OF SIEMENS.
Skin Diseases
'Skin diseases' is a broad term for various conditions affecting the skin, including inflammatory disorders, infections, benign and malignant tumors, congenital abnormalities, and degenerative diseases, which can cause symptoms such as rashes, discoloration, eruptions, lesions, itching, or pain.
Ichthyosis, Lamellar
A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.
Susac Syndrome
Acanthosis Nigricans
Bowen's Disease
A persistent progressive non-elevated red scaly or crusted plaque which is due to an intradermal carcinoma and is potentially malignant. Atypical squamous cells proliferate through the whole thickness of the epidermis. The lesions may occur anywhere on the skin surface or on mucosal surfaces. The cause most frequently found is trivalent arsenic compounds. Freezing, cauterization or diathermy coagulation is often effective. (From Rook et al., Textbook of Dermatology, 4th ed, pp2428-9)
Callosities
Localized hyperplasia of the horny layer of the epidermis due to pressure or friction. (Dorland, 27th ed)
Acitretin
Skin Diseases, Genetic
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
Papilloma
Dermatitis
Any inflammation of the skin.
Hand Dermatoses
Hand dermatoses is a general term referring to various inflammatory skin conditions primarily affecting the hands, such as eczema, psoriasis, and contact dermatitis, characterized by erythema, scaling, vesiculation, fissuring, or lichenification.
Angiokeratoma
A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis.