Journal
PEDIATRIC DERMATOLOGY
Volume 35, Issue 5, Pages E316-E318Publisher
WILEY
DOI: 10.1111/pde.13553
Keywords
atypical spitzoid lesions; BAP1; BAP1 inactivated melanocytic nevus; genetic diseases; mechanisms; glomus juglare tumor; melanoma; nevi-melanocytic; paraganglioma
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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.
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