A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis

Özet

Epidermolytic hyperkeratosis (EHK) is a rare genodermatosis whose prevalenceis less than 1 in 100,000. Mutations in either the keratin 1 or keratin 10genes lead to EHK characterized by congenital erythema and epidermal blistersat birth, followed by hyperkeratotic skin lesions with age. We here reporta 1-and-a-half-year-old male infant with EHK caused by a novel mutation,c.479A>G, g.489A>G, p. Y160C, of the keratin 10 gene. Mutation at thisposition has been reported previously, but the type of amino acid change wasdifferent. These results expand the database of keratin 10 gene mutations.