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Germline BRCA 1‐associated protein 1 mutation presenting as BAP1 inactivated melanocytic nevi in a child of a father with fatal paraganglioma
Author(s) -
Watchorn Richard E.,
Calonje Eduardo,
Taibjee Saleem M.
Publication year - 2018
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13553
Subject(s) - medicine , germline , immunohistochemistry , germline mutation , mutation , pathology , dermatology , biology , genetics , gene
BRCA 1‐associated protein 1( BAP 1) inactivated melanocytic nevi are pink to tan and dome‐shaped in clinical appearance, resembling dermal nevi, but with distinct histologic features of two melanocytic subpopulations: larger atypical melanocytes and nests of smaller, blander nevoid melanocytes. Pedigrees with BAP 1 mutations are at greater risk of various malignancies. We report the case of a 16‐year‐old boy with multiple benign‐appearing nevi, all demonstrating loss of BAP 1 on immunohistochemistry. History revealed that his father had died of paraganglioma, which is also associated with BAP 1 mutations.