Mosaic <i>STIM1</i> Variant Associated with Epidermal Nevus
Epidermal nevi (EN) are mosaic epidermal differentiation disorders caused by postzygotic variants that affect pathways regulating epidermal proliferation, differentiation, and barrier function. We report a young woman with a verrucous EN harboring a somatic mosaic indel variant in STIM1, expanding the molecular spectrum of EN and implicating dysregulated calcium signaling as a novel pathogenic mechanism.
Authors
- Lihi Atzmony (ORCID: https://orcid.org/0000-0001-5149-5777)
- Katharine T. Ellis (ORCID: https://orcid.org/0000-0001-8269-1711)
- William Liu
- Angela J. Luo
- Ronghua Hu
- Keith A Choate
- Xingyuan Jiang (ORCID: https://orcid.org/0000-0002-9891-6353)
Institutions
- Yale University (US)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2026-04-22
- DOI
- https://doi.org/10.1093/bjd/ljag148
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 0.00