Inflammatory linear verrucous epidermal naevus with a postzygotic <i>DSG1</i> variant
We report a 3-year-old girl with inflammatory linear verrucous epidermal naevus (ILVEN) in whom whole-exome sequencing with Sanger confirmation identified a postzygotic mosaic DSG1 c.1684G&gt;A (p.Gly562Arg) variant in lesional skin. Using the recently proposed pathogenesis-guided classification framework, we designate this presentation as DSG1-nonsyndromic epidermal differentiation disorder-linear. This finding adds DSG1 to the spectrum of genes associated with ILVEN and further clarifies the clinical heterogeneity and genotype-phenotype correlations of DSG1-related diseases.
Authors
- Zhimiao Lin (ORCID: https://orcid.org/0000-0002-3240-1998)
- Shuanghai Hu (ORCID: https://orcid.org/0000-0002-0702-879X)
- Wenhua Li (ORCID: https://orcid.org/0000-0002-9457-6662)
- Jie Yang (ORCID: https://orcid.org/0000-0003-4801-7162)
- Fang Yang (ORCID: https://orcid.org/0000-0003-4390-677X)
- Jialin Wei
- Xingye Meng
Institutions
- Southern University of Science and Technology (CN)
- Third Affiliated Hospital of Southern Medical University (CN)
- Southern Medical University Shenzhen Hospital (CN)
- Shenzhen Nanshan Center for Chronic Disease Control (CN)
- Shenzhen Second People's Hospital (CN)
- Southern Medical University (CN)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2026-04-22
- DOI
- https://doi.org/10.1093/bjd/ljag158
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 0.00