Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

MADAM, Loricrin keratoderma (syn. Camisa syndrome, OMIM 604117) is a rare autosomal dominant genodermatosis characterised by palmoplantar keratoderma and ichthyosis.(1,2) It is caused by mutations in loricrin, a small basic protein synthesized in the upper granular layer, which becomes a major constituent of the cornified cell envelope. (3) Seven distinct mutations in loricrin have been reported in 15 unrelated pedigrees to date.(4-6) We report a multi-generation family with prominent ichthyosis and palmoplantar involvement due to a novel mutation in loricrin. This article is protected by copyright. All rights reserved.