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J Invest Dermatol. 1992 Nov;99(5):524-7.

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

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Department of Dermatology, University of California School of Medicine, San Francisco.


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.

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