Skin Diseases, Genetic
| Definition: |
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. |
| Notes: |
GEN or unspecified; prefer specifics; DF: SKIN DIS GENET |
| Previously Indexed: |
Skin Diseases (1975-1997) |
Skin Diseases, Genetic Categories.
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Cutis Laxa - A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed) |
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Dermatitis, Atopic - A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. |
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Keratoderma, Palmoplantar - 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). |
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Keratosis Follicularis - A slowly progressive autosomal dominant disorder of keratinization characterized by pinkish-to-tan papules that coalesce to form plaques. These lesions become darker over time and commonly fuse, forming papillomatous and warty malodorous growths. |
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Pemphigus, Benign Familial - Rare hereditary disease characterized by recurrent eruptions of vesicles and bullae mainly on the neck, axillae, and groin. It exhibits autosomal dominant inheritance and is unrelated to pemphigus vulgaris though it closely resembles that disease. |
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Porokeratosis - A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. |
Skin Diseases, Genetic Definitions and Terms
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