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Published on: April 4, 2018
A Germline Missense Variant in the NSDHL Gene Underlies Inflammatory Linear Verrucous Epidermal Nevus
Janan Mohamad1, Kiril Malovitski1,2, Moshe Giladi2,3
1Division of Dermatology, Tel Aviv Sourasky University Medical Center, Tel Aviv, Israel.
Abstract:
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.
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