title: Choroidal melanoma and lid fibrofoliculomas in Birt-Hogg-Dubé syndrome.
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.
authors.affiliation: Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota 55905, USA.
authors.forename: Irene Canal
authors.initials: IC
authors.lastname: Fontcuberta
authors.forename: Diva R
authors.initials: DR
authors.lastname: Salomão
authors.forename: Polly A
authors.initials: PA
authors.lastname: Quiram
authors.forename: Jose S
authors.initials: JS
authors.lastname: Pulido
mesh_terms: D058249:Birt-Hogg-Dube Syndrome / Q000235:genetics / Q000473:pathology*; D001918:Brachytherapy; D002830:Choroid Neoplasms / Q000235:genetics / Q000473:pathology*; D005141:Eyelid Diseases / Q000235:genetics / Q000473:pathology*; D006201:Hair Diseases / Q000235:genetics / Q000473:pathology*; D018859:Hair Follicle / Q000473:pathology*; D006801:Humans; D007457:Iodine Radioisotopes / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008297:Male; D008545:Melanoma / Q000235:genetics / Q000473:pathology*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C476078:FLCN protein, human; D007457:Iodine Radioisotopes; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins