Watchorn Richard E, Calonje Eduardo, Taibjee Saleem M
Dermatology Department, St. Mary's Hospital, London, United Kingdom.
Department of Dermatopathology, St John's Institute of Dermatology, St Thomas' Hospital, London, United Kingdom.
Pediatr Dermatol. 2018 Sep;35(5):e316-e318. doi: 10.1111/pde.13553. Epub 2018 Jul 4.
BRCA1-associated protein 1(BAP1) 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 BAP1 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 BAP1 on immunohistochemistry. History revealed that his father had died of paraganglioma, which is also associated with BAP1 mutations.
BRCA1相关蛋白1（BAP1）失活的黑素细胞痣在临床上表现为粉红色至棕褐色，呈圆顶状，类似于皮内痣，但具有两个黑素细胞亚群的独特组织学特征：较大的非典型黑素细胞和较小的、形态较单一的痣样黑素细胞巢。携带BAP1突变的家系患各种恶性肿瘤的风险更高。我们报告了一例16岁男孩，他有多个外观良性的痣，免疫组化均显示BAP1缺失。病史显示他的父亲死于副神经节瘤，这也与BAP1突变有关。
