Choroidal melanoma and lid fibrofoliculomas in Birt-Hogg-Dubé syndrome

Ophthalmic Genet. 2011 Sep;32(3):143-6. doi: 10.3109/13816810.2010.544367. Epub 2011 Mar 14.

Abstract

Background: Birt-Hogg-Dubé Syndrome (BHDS) is a rare inherited genodermatosis that predisposes patients to develop skin fibrofolliculomas, lung cysts, pneumothorax, and bilateral renal cancer.

Methods: Observational case report.

Results: We describe a case of choroidal melanoma and multiple lid folliculomas in a 63 years old patient with BHDS.

Conclusions: A variety of different tumors have been described associated with BHDS. This is the first case report of a patient with BHDS developing choroidal melanoma. Careful examination of the lids is important to identify fibrofolliculomas.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Birt-Hogg-Dube Syndrome / genetics
  • Birt-Hogg-Dube Syndrome / pathology*
  • Brachytherapy
  • Choroid Neoplasms / genetics
  • Choroid Neoplasms / pathology*
  • Eyelid Diseases / genetics
  • Eyelid Diseases / pathology*
  • Hair Diseases / genetics
  • Hair Diseases / pathology*
  • Hair Follicle / pathology*
  • Humans
  • Iodine Radioisotopes / therapeutic use
  • Magnetic Resonance Imaging
  • Male
  • Melanoma / genetics
  • Melanoma / pathology*
  • Middle Aged
  • Mutation / genetics
  • Proto-Oncogene Proteins / genetics
  • Tumor Suppressor Proteins / genetics

Substances

  • FLCN protein, human
  • Iodine Radioisotopes
  • Proto-Oncogene Proteins
  • Tumor Suppressor Proteins