[A brown-red papule]

Ned Tijdschr Geneeskd. 2017:161:D1687.
[Article in Dutch]

Abstract

A 44-year-old woman was referred with a brown-red papule on the back. Histopathologic examination showed a melanocytic BAP1-associated intradermal tumour. A germline mutation in the BAP1 gene confirmed a diagnosis of BAP1 tumour predisposition syndrome. This syndrome is associated with various tumour types. Early diagnosis is essential for counselling and screening.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Genetic Predisposition to Disease
  • Germ-Line Mutation*
  • Humans
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics*
  • Tumor Suppressor Proteins*
  • Ubiquitin Thiolesterase*

Substances

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