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Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutation
Author(s) -
Martin R.J.,
Arefi M.,
Splitt M.,
Redford L.,
Moss C.,
Rajan N.
Publication year - 2018
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.15643
Subject(s) - hras , costello syndrome , germline , germline mutation , mutation , precocious puberty , nevus , biology , cancer research , dermatology , genetics , medicine , endocrinology , gene , hormone , kras , melanoma
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. This article is protected by copyright. All rights reserved.