Case report reveals a genetic mutation in a child with epidermal nevus, woolly hair, and neurological issues, suggesting new disease connections.
Epidermal nevus and woolly hair may rarely coexist as part of mosaic RASopathies caused by postzygotic HRAS mutations. We report a 1-year-old boy with ipsilateral epidermal nevus and localized woolly hair, accompanied by right frontal encephalomalacia and developmental delay. Genetic testing revealed a mosaic HRAS mutation (c.34G>A, p.Gly12Ser) in lesional skin. This case expands the spectrum of HRAS-related mosaic RASopathies and highlights the association between epidermal nevus, woolly hair and neurological involvement.
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Muallem et al. (2026) studied this question.
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