LB969 Cicatricial junctional epidermolysis bullosa (CJEB): A forgotten phenotype

Abstract

CJEB, a subtype of EB first described in 1985, is characterized by blistering with scarring that can result in a degree of pseudosyndactyly and scarring alopecia. Phenotypically it may resemble recessive dystrophic EB (RDEB) and be misdiagnosed as such; however on electron microscopy a split is seen at the level of the lamina lucida. We report 2 cases of patients with CJEB. Patient 1 is a 34yr old female with a homozygous in-frame deletion of exons 16 and 17 in COL17A1, and Patient 2 a 21yr old female with a homozygous nonsense mutation of LAMB3(c.1702C>T, p.Q568X).