A case of recurrent pneumothorax and skin lesions diagnosed with Birt–Hogg–Dubé

ABSTRACT Birt–Hogg–Dubé (BHD) syndrome is an autosomal dominant disease that is manifested as benign cutaneous tumors, multiple lung parenchymal cysts and an increased risk of renal cancer. Its symptoms usually do not appear until adulthood. We report a patient who was admitted with recurrent pneumo...

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Bibliographic Details
Published in:Oxford Medical Case Reports Vol. 2022; no. 5; p. omac054
Main Authors: Takaldani, Ali Hossein Samadi, Negaresh, Mohammad, Jalalzadeh, Solmaz, Lotfi, Leila, Ghobadi, Hassan
Format: Journal Article
Language:English
Published: England Oxford University Press 01-05-2022
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Summary:ABSTRACT Birt–Hogg–Dubé (BHD) syndrome is an autosomal dominant disease that is manifested as benign cutaneous tumors, multiple lung parenchymal cysts and an increased risk of renal cancer. Its symptoms usually do not appear until adulthood. We report a patient who was admitted with recurrent pneumothorax. Discovering typical cutaneous lesions accompanied with a history of the same condition in his son, BHD syndrome was diagnosed.
ISSN:2053-8855
2053-8855
DOI:10.1093/omcr/omac054