The keratins and their disorders.

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.

• Authors: Elizabeth L Rugg, Irene M Leigh
• Journal: American journal of medical genetics. Part C, Seminars in medical genetics (Am J Med Genet C Semin Med Genet) Vol. 131C Issue 1 Pg. 4-11 (Nov 15 2004) ISSN: 1552-4868 [Print] United States
• PMID: 15452838 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: (c) 2004 Wiley-Liss, Inc.

Chemical References

• Keratins

Topics

• Epidermis (physiopathology)
• Epithelium (physiopathology)
• Gene Components
• Gene Expression
• Genotype
• Hair (physiopathology)
• Humans
• Keratins (genetics)
• Mutation (genetics)
• Phenotype
• Protein Structure, Tertiary
• Skin Diseases, Genetic (genetics)