A recurrent variant in two patients with EMP2 -nonsyndromic epidermal differentiation disorder

British Journal of Dermatology 2026

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Authors: Yunran Peng, Nicole Cesarato, Tsenka Tomova‐Simitchieva, Sisi Zhao, Huijun Wang, R. Betz, Ulrike Blume‐Peytavi, Zhimiao Lin
DOI: 10.1093/bjd/ljag045
Cited by: 0
References: 8

Abstract

We identify a recurrent de novo heterozygous variant (c.11T>C, p.Leu4Pro) in EMP2 as a cause of EMP2-nEDD in two sporadic patients. Functional studies revealed that the variant exhibited significantly reduced localization at the plasma membrane, disrupting lipid raft integrity and triggering ligand-independent EGFR activation and internalization. Consequently, treatment with the EGFR inhibitor erlotinib led to significant clinical improvement in one patient after 1 month.

Fields of Study & Subjects

Skin and Cellular Biology Research Genetic and rare skin diseases. HER2/EGFR in Cancer Research

Publication details

Journal / source
British Journal of Dermatology
Volume
194
Issue
5
Pages
974–976
Publication date
5 February 2026
Language
EN