Genetic risk factors for spontaneous pneumothorax in Birt-Hogg-Dubé syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "Chest"
DOI: 10.1016/j.chest.2019.12.019
Abstract: BACKGROUND Birt-Hogg-Dubé syndrome (BHDS) is a genetic tumor syndrome characterized by lung cysts, spontaneous pneumothorax, fibrofolliculoma and renal cell cancer. Due to its rarity and clinical heterogeneity, much is still unknown regarding the course of… read more here.
Keywords: birt hogg; risk; hogg dub; spontaneous pneumothorax ... See more keywords
Birt-Hogg-Dubé Syndrome presenting with chronic progressive dyspnea
Sign Up to like & getrecommendations! Published in 2021 at "Respiratory Medicine Case Reports"
DOI: 10.1016/j.rmcr.2021.101407
Abstract: Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant disease which manifests with cutaneous hamartomas, lung cysts and renal carcinomas. A wide spectrum of phenotypic expression and few visible manifestations makes BHDS a likely under-recognized entity.… read more here.
Keywords: birt hogg; chronic progressive; hogg dub; progressive dyspnea ... See more keywords
[Not a pneumothorax again! Birt-Hogg-Dubé syndrome: a case report].
Sign Up to like & getrecommendations! Published in 2023 at "Pneumologie"
DOI: 10.1055/a-2028-6032
Abstract: Case discussion of a 40-year-old male patient with a history of recurrent pneumothoraces due to Birt-Hogg-Dubé syndrome. In addition to conservative treatment of a pneumothorax on the left side, a subtotal parietal pleurectomy on the… read more here.
Keywords: pneumothorax; birt hogg; hogg dub; dub syndrome ... See more keywords
Novel clinical scoring system to identify patients with pneumothorax with suspicion for Birt–Hogg–Dubé syndrome
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DOI: 10.1111/resp.13191
Abstract: Birt–Hogg–Dubé syndrome (BHDS) is a rare hereditary disease that presents with multiple lung cysts and pneumothorax (PTX). Although some reports propose that findings from chest computed tomography enable one to distinguish BHDS from primary spontaneous… read more here.
Keywords: suspicion; birt hogg; hogg dub; dub syndrome ... See more keywords
Phaeochromocytoma in a patient with a Birt-Hogg-Dubé syndrome phenotype
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DOI: 10.1136/bcr-2022-252362
Abstract: A case of phaeochromocytoma in a female patient in her 50s with phenotypical expressions for the rare Birt-Hogg-Dubé (BHD) syndrome is presented. Whether this is an incidental finding or that there is a composite relationship… read more here.
Keywords: phaeochromocytoma patient; birt hogg; hogg dub; patient birt ... See more keywords
Adrenal Cortical Carcinoma and Additional Rare Pathologic Findings in Multi-Organs in a Birt-Hogg-Dubé Syndrome Patient: With an Emphasis on the Molecular Characteristics of Adrenal Cortical Carcinoma.
Sign Up to like & getrecommendations! Published in 2022 at "International journal of surgical pathology"
DOI: 10.1177/10668969221117246
Abstract: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder caused by germline alterations in the FLCN gene. We report a 38-year-old man with BHD syndrome presenting with multiple rare pathologic findings involving various organs, including… read more here.
Keywords: cortical carcinoma; rare pathologic; birt hogg; hogg dub ... See more keywords
Comment on Balsamo et al.: “Birt–Hogg–Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature”
Sign Up to like & getrecommendations! Published in 2022 at "BMC Medical Genomics"
DOI: 10.1186/s12920-022-01233-9
Abstract: In this comment, we highlight the diagnosis of Birt–Hogg–Dubé (BHD) in a 60-year-old man was made from identification and removal of normochromic papular cutaneous lesions whose histological examination indicated trichodyscomas and which are considered equivalent… read more here.
Keywords: comment; hyperplastic polyposis; birt hogg; hogg dub ... See more keywords
Difference of the progression of pulmonary cysts assessed by computed tomography among COPD, lymphangioleiomyomatosis, and Birt-Hogg-Dubé syndrome
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DOI: 10.1371/journal.pone.0188771
Abstract: Many groups developed the methods to quantitatively analyze low attenuation area (LAA) on chest CT in patients with cystic lung diseases. Especially in COPD, it was reported that the cumulative size distribution of LAA clusters… read more here.
Keywords: birt hogg; hogg dub; bhds; size ... See more keywords
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population
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DOI: 10.1371/journal.pone.0264056
Abstract: Birt-Hogg-Dube syndrome (BHDS) (MIM: 135150) is a rare autosomal dominant disorder with variable penetrance, caused by pathogenic variants in the FLCN gene. Only a few hundreds of families have so far been described in the… read more here.
Keywords: founder mutation; birt hogg; population; swedish population ... See more keywords
Epidemiology and clinical features of Birt-Hogg-Dubé syndrome: A nationwide population-based study in South Korea
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DOI: 10.1371/journal.pone.0269358
Abstract: Background Birt–Hogg–Dubé (BHD) syndrome is an ultrarare lung disease with unclear prevalence and incidence. Our study aimed to identify the epidemiological and clinical features of BHD syndrome by using nationwide claims data from the Korean… read more here.
Keywords: birt hogg; hogg dub; bhd syndrome; epidemiology ... See more keywords
Clinical and Genetic Comparison of Birt–Hogg–Dubé Syndrome (Hornstein–Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases
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DOI: 10.2147/ijgm.s359660
Abstract: Background Birt–Hogg–Dubé syndrome (BHD), also named Hornstein–Knickenberg syndrome, is a rare autosomal dominant disease characterized by lung cysts, recurrent pneumothoraxes, renal cell carcinoma and skin fibrofolliculomas. Purpose This study summarizes the clinical and genetic information… read more here.
Keywords: bhd patients; birt hogg; hogg dub; bhd ... See more keywords