Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature

Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature

Abstract Background Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal...

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Bibliographic Details
Main Authors: Flávia Balsamo, Pedro Augusto Soffner Cardoso, Sergio Aparecido do Amaral Junior, Therésè Rachell Theodoro, Flavia de Sousa Gehrke, Maria Aparecida da Silva Pinhal, Bianca Bianco, Jaques Waisberg
Format: Article
Language:English
Published: BMC 2020-03-01
Series:BMC Medical Genetics
Subjects:
Birt-Hogg-Dubé syndrome
FLCN gene
Skin neoplasms
Pneumothorax
Polyps
Online Access:http://link.springer.com/article/10.1186/s12881-020-0991-8

Internet

http://link.springer.com/article/10.1186/s12881-020-0991-8

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