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

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

doi:10.3109/13816810.2010.544367

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

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

Ophthalmology

Research output: Contribution to journal › Article › peer-review

9 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 language	English (US)
Pages (from-to)	143-146
Number of pages	4
Journal	Ophthalmic Genetics
Volume	32
Issue number	3
DOIs	https://doi.org/10.3109/13816810.2010.544367
State	Published - Sep 2011

Keywords

folliculin
hereditary renal cancer
mTOR Pathway

ASJC Scopus subject areas

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

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title = "Choroidal melanoma and lid fibrofoliculomas in Birt-Hogg-Dub{\'e} syndrome",

abstract = "Background: Birt-Hogg-Dub{\'e} 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.",

keywords = "folliculin, hereditary renal cancer, mTOR Pathway",

author = "Fontcuberta, {Irene Canal} and Salom{\~a}o, {Diva R.} and Quiram, {Polly A.} and Pulido, {Jose S.}",

note = "Funding Information: Supported in part by an unrestricted grant from Research to Prevent Blindness Inc. and from a grant from Terry and Judith Paul. This study was approved by the Mayo Clinic Institutional Review Board.",

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doi = "10.3109/13816810.2010.544367",

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T1 - Choroidal melanoma and lid fibrofoliculomas in Birt-Hogg-Dubé syndrome

AU - Fontcuberta, Irene Canal

AU - Salomão, Diva R.

AU - Quiram, Polly A.

AU - Pulido, Jose S.

N1 - Funding Information: Supported in part by an unrestricted grant from Research to Prevent Blindness Inc. and from a grant from Terry and Judith Paul. This study was approved by the Mayo Clinic Institutional Review Board.

PY - 2011/9

Y1 - 2011/9

N2 - 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.

AB - 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.

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

Abstract

Keywords

ASJC Scopus subject areas

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