What question did this study set out to answer?

The aim is to highlight the rare coexistence of epidermal nevus and woolly hair linked to HRAS mutations.

June 20, 2026

Epidermal Nevus with Woolly Hair: A Case Report

AMAviya MuallemHebrew University of Jerusalem THTamar HarelHebrew University of Jerusalem MNMichal NeumarkHebrew University of Jerusalem

Key Points

The aim is to highlight the rare coexistence of epidermal nevus and woolly hair linked to HRAS mutations.
Case report of a 1-year-old boy
Genetic testing for HRAS mutations in lesional skin
Clinical assessment of neurological involvement
Mosaic HRAS mutation (c.34G>A, p.Gly12Ser) identified in the child
Developmental delay and right frontal encephalomalacia observed
Association between epidermal nevus, woolly hair, and neurological symptoms is confirmed

Abstract

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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