Germline BRCA1-associated protein 1 mutation presenting as BAP1 inactivated melanocytic nevi in a child of a father with fatal paraganglioma

Pediatr Dermatol. 2018 Sep;35(5):e316-e318. doi: 10.1111/pde.13553. Epub 2018 Jul 4.

Abstract

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.

Keywords: BAP1; BAP1 inactivated melanocytic nevus; atypical spitzoid lesions; genetic diseases/mechanisms; glomus juglare tumor; melanoma; nevi-melanocytic; paraganglioma.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Fathers
  • Germ-Line Mutation
  • Humans
  • Male
  • Nevus, Pigmented / genetics*
  • Nevus, Pigmented / pathology
  • Paraganglioma / genetics*
  • Skin / pathology
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology
  • Tumor Suppressor Proteins / genetics*
  • Ubiquitin Thiolesterase / genetics*

Substances

  • BAP1 protein, human
  • Tumor Suppressor Proteins
  • Ubiquitin Thiolesterase