[Inherited abnormalities of the epidermis caused by mutation of keratins].
The recent identification of keratin mutations as a cause of hereditary disorders of keratinization stresses the importance of an intact cytoskeleton of keratinocytes. Four disorders have reported to be caused by keratin mutations so far: epidermolysis bullosa simplex, bullous congenital ichthyosiform erythroderma, ichthyosis bullosa and epidermolytic palmoplantar hyperkeratosis. Molecular genetic diagnosis of keratin disorders is being introduced into the clinical routine and prenatal diagnosis is possible after 10 weeks of gestation.
Laboratoire de Biologie cutanée, CHUV, Lausanne (Suisse)
D
D
Hohl
D004817:Epidermis; D005260:Female; D006801:Humans; D015603:Keratinocytes / Q000737:chemistry; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D008297:Male; D008967:Molecular Biology; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012871:Skin Diseases / Q000235:genetics*
D007633:Keratins
Génodermatoses de l'épiderme résultant de mutations des kératines.