Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutation

Germline mutations in the oncogene HRAS cause syndromes with systemic and cutaneous features, notably Costello syndrome (CS).¹ Postzygotic activating mutations in HRAS are increasingly recognised as a cause of epidermal naevi which are sometimes associated with the extracutaneous features of germline rasopathies. Epidermal naevi caused by HRAS mutations present with varied morphology including sebaceous naevus, woolly hair naevus and phacomatosis pigmentokeratotica (PPK)².

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