Somatic Mosaicism for a 'Lethal' GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement

摘要

Background: Spiny hyperkeratosis refers to a rare clinical phenotype characterized by nonfollicular keratotic projections and sometimes associated with other acquired and inherited conditions. We describe a case of congenital patterned spiny hyperkeratosis.