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.
- hereditary renal cancer
- mTOR Pathway
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health