R. Moraru et al., Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene, CLIN EXP D, 24(5), 1999, pp. 412-415
Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant disorder of ke
ratinization. It is characterized by a mild epidermolytic ichthyosis which
tends to localize to the flexures. Affected individuals are born with wides
pread 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 t
his report, we describe a novel mutation in the keratin 2e gene in a four-g
eneration IBS kindred of German ancestry The mutation resides within the 2B
helix termination motif of the keratin 2e gene, and extends the body of ev
idence implicating keratin re gene mutations in IBS.