Missense Mutation Y449H of the K10 Gene in a Patient with Severe Epidermolytic Ichthyosis

March 2019 in “ European Journal of Dermatology ”

Keita Takemoto, Teruhiko Makino, Megumi Mizawa, Yoshiaki Kubo, Tadamichi Shimizu

missense mutation Y449H K10 gene epidermolytic ichthyosis autosomal dominant erythrodermic ichthyosiform skin K1 gene hyperkeratosis skin disorder genetic mutation

TLDR A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.

The study reported the detection of a missense mutation Y449H in the K10 gene in a patient with severe epidermolytic ichthyosis (EI), a rare autosomal dominant skin disorder. EI is characterized by generalized erythrodermic ichthyosiform skin and is caused by mutations in the K1 or K10 genes. The clinical and histological findings of EI can vary among patients, with hyperkeratosis of the palms and soles more commonly observed in those with K1 mutations compared to K10 mutations.

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