A Germline Missense Variant in the NSDHL Gene Underlies Inflammatory Linear Verrucous Epidermal Nevus.

Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disorder characterized by pruritic, erythematous, and scaly plaques following Blaschko's lines. Known genetic causes include somatic variants in CARD14 and GJA1. In addition, a similar phenotype of congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) nevus has been associated with germline pathogenic variants in NSDHL encoding a NAD(P)-dependent steroid dehydrogenase-like protein essential for cholesterol biosynthesis. Here we report a case of ILVEN caused by a previously unreported germline pathogenic variant in NSDHL.

Abstract from PubMed