Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.
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.
Bonifas
J M
JM
Department of Dermatology, University of California School of Medicine, San Francisco.
Bare
J W
JW
Chen
M A
MA
Lee
M K
MK
Slater
C A
CA
Goldsmith
L A
LA
Epstein
E H
EH
D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics*; D007633:Keratins / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype
D007633:Keratins