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European Journal of Dermatology

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Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis Volume 29, issue 2, March-April 2019

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Authors
1 Department of Dermatology, Graduate School of Medicine and Pharmaceutical sciences, University of Toyama, Toyama
2 Department of Dermatology, Tokushima University Graduate School of Medical Science, Tokushima, Japan

Epidermolytic ichthyosis (EI; OMIM 113800) is a rare autosomal dominant genodermatosis characterized by generalized erythrodermic ichthyosiform skin and caused by mutations in the genes K1 or K10[1]. Hyperkeratosis of the palms and soles is more often observed in EI patients with mutations in K1 than in those with mutations in K10[2], however, the clinical and histological findings vary among patients. We report herein the detection of a missense mutation in the K10 gene in a patient with a severe [...]