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.

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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
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article

Mosaic STIM1 Variant Associated with Epidermal Nevus

Lihi Atzmony, Katharine T. Ellis, William Liu, Angela J. Luo et al.
British Journal of Dermatology
Genetic and rare skin diseases.
article

Mosaic STIM1 Variant Associated with Epidermal Nevus

Lihi Atzmony, Katharine T. Ellis, William Liu, Angela J. Luo, Ronghua Hu, Keith A Choate, Xingyuan Jiang
article en

Abstract

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.

British Journal of Dermatology
Yale University (US)
Openalex Percentile: Top 5%
Genetic and rare skin diseases.
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