Profound changes in the epidermis occur associated with abnormal epidermal structural proteins and lipids. Abnormal suprabasal keratins cause blistering and scaling: epidermolytic hyperkeratosis. Other abnormal keratins are associated with marked deformed nails and prenatal teeth: pachyonychia congenita. Deficient transglutaminase an enzyme that cross-links epidermal proteins is associated with generalized scaling: lamellar ichthyosis. Males with deficient steroid sulfatase have associated brown epidermal scales. Defective fatty acid alcohol metabolism in addition to scaling has associated mental retardation and spastic diplegia: Sjogren-Larsson syndrome. Mutations in different calcium pumps are associated with scaling and sun sensitivity (Darier disease) or blistering especially in intertriginous areas (Hailey-Hailey disease). Connexins, when mutated, are associated with scaling of the skin and sometimes associated deafness. © 2006 Humana Press Inc.
CITATION STYLE
Stein, A., & Goldsmith, L. A. (2006). Genetic epidermal diseases. In Principles of Molecular Medicine (pp. 1043–1051). Humana Press. https://doi.org/10.1007/978-1-59259-963-9_107
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