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- Title
Phacomatosis pigmentokeratotica and precocious puberty associated with <italic>HRAS</italic> mutation.
- Authors
Martin, R. J.; Arefi, M.; Splitt, M.; Redford, L.; Moss, C.; Rajan, N.
- Abstract
The article presents a case study of an informative patient with phacomatosis pigmentokeratotica (PPK) presented with symptoms such as multiple melanocytic naevi and enlarged genitalia. Topics discussed include confirmation of central precocious puberty with adult levels of testosterone and luteinizing hormone from endocrine investigations, activating mutation of mutation HRAS detected in affected and unaffected skin, and association of PPK with precocious puberty.
- Subjects
PHAKOMATOSES; MELANOMA; GENITAL abnormalities; PUBERTY; TESTOSTERONE; HRAS genes; GENETIC mutation
- Publication
British Journal of Dermatology, 2018, Vol 178, Issue 1, p289
- ISSN
0007-0963
- Publication type
Case Study
- DOI
10.1111/bjd.15643