The keratins and their disorders

EL Rugg, IM Leigh - American Journal of Medical Genetics Part …, 2004 - Wiley Online Library
EL Rugg, IM Leigh
American Journal of Medical Genetics Part C: Seminars in Medical …, 2004Wiley Online Library
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) …
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. © 2004 Wiley‐Liss, Inc.
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