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.
Authors
- Janan Mohamad (ORCID: https://orcid.org/0000-0002-9849-7566)
- Ofer Sarig (ORCID: https://orcid.org/0000-0003-2987-2091)
- Eli Sprecher (ORCID: https://orcid.org/0000-0002-4093-1032)
- Kiril Malovitski (ORCID: https://orcid.org/0000-0002-4171-6668)
- Jacob Mashiah (ORCID: https://orcid.org/0000-0002-9417-2932)
- Yarden Feller (ORCID: https://orcid.org/0000-0002-0299-3304)
- Moran Furman
- Liat Samuelov (ORCID: https://orcid.org/0009-0009-6498-9755)
- Moshe Giladi (ORCID: https://orcid.org/0000-0002-8589-6920)
- Eylon Sharoni
- Nabih Elias (ORCID: https://orcid.org/0009-0008-2635-6896)
Institutions
- Tel Aviv University (IL)
- Tel Aviv Sourasky Medical Center (IL)
Publication Details
- Journal
- Pediatric Dermatology
- Published
- 2026-09-11
- DOI
- https://doi.org/10.1111/pde.70355
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 0.00