Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant disorder of keratinization. It is characterized by a mild epidermolytic ichthyosis which tends to localize to the flexures. Affected individuals are born with widespread blistering, which develops into large hyperkeratotic plaques over the extremities. Mutations in the K2e gene cause epidermolytic hyperkeratosis confined to the upper spinous and granular layers, as observed in IBS. In this report, we describe a novel mutation in the keratin 2e gene in a four-generation IBS kindred of German ancestry. The mutation resides within the 2B helix termination motif of the keratin 2e gene, and extends the body of evidence implicating keratin 2e gene mutations in IBS.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.