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.
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: Mohamed H Abdel-Rahman; Klarke M Sample; Robert Pilarski; Tomas Walsh; Timothy Grosel; Daniel Kinnamon; Getachew Boru; James B Massengill; Lynn Schoenfield; Ben Kelly; David Gordon; Peter Johansson; Meghan J DeBenedictis; Arun Singh; Silvia Casadei; Frederick H Davidorf; Peter White; Andrew W Stacey; James Scarth; Ellie Fewings; Marc Tischkowitz; Mary-Claire King; Nicholas K Hayward; Colleen M Cebulla Journal: Ophthalmology Date: 2019-11-18 Impact factor: 12.079
Authors: Sounak Gupta; Lori A Erickson; Christine M Lohse; Wei Shen; Beth A Pitel; Shannon M Knight; Kevin C Halling; Loren Herrera-Hernandez; Stephen A Boorjian; R Houston Thompson; Bradley C Leibovich; Rafael E Jimenez; John C Cheville Journal: JAMA Netw Open Date: 2021-11-01