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Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):4-11.

The keratins and their disorders.

Author information

1
Department of Dermatology, University of California Irvine, 92697-2400, USA. erugg@uci.edu

Abstract

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.

PMID:
15452838
DOI:
10.1002/ajmg.c.30029
[Indexed for MEDLINE]

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