Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.

Abstract

Bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) is a severe, generalized, lifelong disease of the skin. As in epidermolysis bullosa simplex, intraepidermal blisters and clumping of keratin intermediate filaments are characteristic. We report here linkage of the inheritance of this disease to the region of chromosome 12q containing the genes encoding type II keratins. This suggests that keratin gene mutations may underlie this complex hyperproliferative and hyperkeratotic phenotype.

• Authors: J M Bonifas, J W Bare, M A Chen, M K Lee, C A Slater, L A Goldsmith, E H Epstein Jr
• Journal: The Journal of investigative dermatology (J Invest Dermatol) Vol. 99 Issue 5 Pg. 524-7 (Nov 1992) ISSN: 0022-202X [Print] United States
• PMID: 1385543 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Keratins

Topics

• Chromosome Mapping
• Chromosomes, Human, Pair 12
• Epidermolysis Bullosa Simplex (genetics)
• Female
• Genetic Linkage
• Humans
• Hyperkeratosis, Epidermolytic (genetics)
• Keratins (genetics)
• Male
• Pedigree
• Phenotype