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 language | English (US) |
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Pages (from-to) | 143-146 |
Number of pages | 4 |
Journal | Ophthalmic Genetics |
Volume | 32 |
Issue number | 3 |
DOIs | |
State | Published - Sep 2011 |
Keywords
- folliculin
- hereditary renal cancer
- mTOR Pathway
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Ophthalmology
- Genetics(clinical)