Work

Mosaic STIM1 variant associated with epidermal naevus

Year: 2026

Type: article

Abstract: Epidermal naevi (EN) are mosaic epidermal differentiation disorders caused by postzygotic variants that affect pathways regulating epidermal proliferation, differentiation and barrier function. We report a case involving a young woman with a verrucous EN harbouring a somatic mosaic indel variant in STIM1, expanding the molecular spectrum of EN and implicating dysregulated calcium signalling as a novel pathogenic mechanism.

Source: British Journal of Dermatology

DOI: 10.1093/bjd/ljag148