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Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.

Abstract
Keratins are obligate heterodimer proteins that form the intermediate filament cytoskeleton of all epithelial cells. Keratins are tissue and differentiation specific and are expressed in pairs of types I and II proteins. The spectrum of inherited human keratin diseases has steadily increased since the causative role of mutations in the basal keratinocyte keratins 5 and 14 in epidermolysis bullosa simplex (EBS) was first reported in 1991. At the time of writing, mutations in 15 epithelial keratins and two trichocyte keratins have been associated with human diseases which include EBS, bullous congenital ichthyosiform erythroderma, epidermolytic palmoplantar keratoderma, ichthyosis bullosa of Siemens, diffuse and focal non-epidermolytic palmoplantar keratoderma, pachyonychia congenita and monilethrix. Mutations in extracutaneous keratins have been reported in oral white sponge naevus and Meesmann's corneal dystrophy. New subtleties of phenotype-genotype correlation are emerging within the keratin diseases with widely varying clinical presentations attributable to similar mutations within the same keratin. Mutations in keratin-associated proteins have recently been reported for the first time. This article reviews clinical, ultrastructural and molecular aspects of all the keratin diseases described to date and delineates potential future areas of research in this field.
AuthorsA D Irvine, W H McLean
JournalThe British journal of dermatology (Br J Dermatol) Vol. 140 Issue 5 Pg. 815-28 (May 1999) ISSN: 0007-0963 [Print] England
PMID10354017 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S., Review)
Chemical References
  • Keratins
Topics
  • Animals
  • Hair Diseases (genetics, pathology)
  • Humans
  • Intermediate Filaments (pathology)
  • Keratins (genetics)
  • Keratosis (genetics, pathology)
  • Multigene Family
  • Mutation
  • Nail Diseases (genetics, pathology)
  • Nevus (genetics, pathology)
  • Pseudogenes
  • Skin Abnormalities (genetics, pathology)

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