Case report reveals a mosaic STIM1 variant affecting epidermal differentiation in a young woman, suggesting a new mechanism.
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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Luo et al. (2026) studied this question.
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