Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation.

Abstract

Society for Publication of Acta Dermato-Venereologica X-linked dominant chondrodysplasia punctata (XDCP; MIM 302960), also known as Conradi-Hunermann syndrome, is an X-linked dominant disorder caused by a mutation in the emopamil binding protein (EBP) gene (1, 2). It is characterized by skeletal, ophthalmological, and cutaneous manifestations. XDCP has been reported to present various manifestations, such as spontaneous resolution of ichthyosiform erythroderma following Blaschko’s lines, follicular atrophoderma, and cicatricial alopecia (3). While during the neonatal period, symptoms of XDCP are sometime severe, it gradually becomes mild in adulthood. We report here an adult female case of XDCP presenting pustular erythematous lesions caused by a novel heterozygous EBP mutation.