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The keratins and their disorders
Author(s) -
Rugg Elizabeth L.,
Leigh Irene M.
Publication year - 2004
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30029
Subject(s) - epidermolysis bullosa simplex , keratin , keratin 5 , keratin 6a , epidermolytic hyperkeratosis , epidermolysis bullosa , ichthyosis vulgaris , epidermis (zoology) , hyperkeratosis , phenotype , biology , lamellar ichthyosis , intermediate filament , dermatology , pathology , ichthyosis , medicine , gene , genetics , cell , anatomy , filaggrin , cytoskeleton , atopic dermatitis
Diseases caused by mutations in gene encoding keratin intermediate filaments (IF) are characterized by a loss of structural integrity in the cells expressing those keratins in vivo. This is manifested as cell fragility, compensatory epidermal hyperkeratosis, and keratin filament aggregation in some affected tissues. Keratin disorders are a novel molecular category including quite different phenotypes such as epidermolysis bullosa simplex (EBS), bullous congenital ichthyosiform erthroderma (BCIE), pachyonychia congenital (PC), steatocystoma multiplex, ichthyosis bullosa of Siemens (IBS), and white sponge nevus (WSN) of the orogenital mucosa. © 2004 Wiley‐Liss, Inc.