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

Irene Canal Fontcuberta, Diva R. Salomão, Polly A. Quiram, Jose S. Pulido

Research output: Contribution to journalArticle

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)143-146
Number of pages4
JournalOphthalmic Genetics
Volume32
Issue number3
DOIs
StatePublished - Sep 1 2011

Keywords

  • folliculin
  • hereditary renal cancer
  • mTOR Pathway

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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