Childhood pneumothorax in Birt‐Hogg‐Dubé syndrome: A cohort study and review of the literature

Geilswijk, Marianne; Bendstrup, Elisabeth; Madsen, Mia Gebauer; Sommerlund, Mette; Skytte, Anne‐Bine

doi:10.1002/mgg3.373

Cited by 16 publications

(10 citation statements)

References 37 publications

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“…This could be explained by changes in atmospheric pressure in aircraft cabin during flight, which can cause cyst expansion and favour their rupture. Although most pneumothoraces occur in patients with pulmonary cysts [55], they have also been reported in the absence of any obvious cysts on HRCT [71,72], and in children with BHD [73].…”

Section: Pulmonary Manifestationsmentioning

confidence: 99%

Birt–Hogg–Dubé syndrome

et al. 2020

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Birt–Hogg–Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene FLCN, encoding the protein folliculin. Its clinical expression typically includes multiple pulmonary cysts, recurrent spontaneous pneumothoraces, cutaneous fibrofolliculomas and renal tumours of various histological types. BHD has no sex predilection and tends to manifest in the third or fourth decade of life. Multiple bilateral pulmonary cysts are found on chest computed tomography in >80% of patients and more than half experience one or more episodes of pneumothorax. A family history of pneumothorax is an important clue, which suggests the diagnosis of BHD. Unlike other cystic lung diseases such as lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis, BHD does not lead to progressive loss of lung function and chronic respiratory insufficiency. Renal tumours affect about 30% of patients during their lifetime, and can be multiple and recurrent. The diagnosis of BHD is based on a combination of genetic, clinical and/or skin histopathological criteria. Management mainly consists of early pleurodesis in the case of pneumothorax, periodic renal imaging for tumour detection, and diagnostic work-up in search of BHD in relatives of the index patient.

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Section: Pulmonary Manifestationsmentioning

confidence: 99%

Birt–Hogg–Dubé syndrome

et al. 2020

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“…Most patients experienced initial episodes of pneumothorax at ages younger than 45 years. Children under 10 years of age rarely have BHD syndrome‐associated symptoms; however, a substantial number of patients experience a pneumothorax in their teenage years . It remains poorly understood when the pulmonary cysts start to develop in the teenagers who experienced pneumothorax, because screening CT is not generally recommended for pre‐symptomatic children.…”

Section: Lung Manifestation and Therapeutic Approachesmentioning

confidence: 99%

Pathology of Birt–Hogg–Dubé syndrome: A special reference of pulmonary manifestations in a Japanese population with a comprehensive analysis and review

Furuya

Nakatani

2019

Pathology International

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Birt-Hogg-Dub e (BHD) syndrome is a rare genetic disorder characterized by cutaneous fibrofolliculomas, pulmonary cysts and renal cell carcinomas. Affected individuals inherit germline mutations in the folliculin gene (FLCN).Approximately 150 pathogenic FLCN variants have been identified worldwide.Many Japanese probands of BHD syndrome were first identified by pulmonologists and/or radiologists during treatment of pneumothoraces. Lung specimens obtained through video-assisted thoracoscopic surgery (VATS) have characteristic features unique to BHD syndrome; however, pathologists often miss key findings and diagnose patients with "bullae/blebs". The pleural and subpleural cysts of BHD syndrome-associated lung diseases are often modified by tissue remodeling and can be difficult to distinguish from emphysematous bullae/blebs. Intraparenchymal unruptured cysts tend to retain distinctive features that are different from other cystic lung diseases. Here, we review the clinicopathological findings of BHD syndrome in a Japanese population based on data from 200 probands diagnosed by genetic testing and a total of 520 symptomatic family members identified through BHD-NET Japan (http://www.bhd-net.jp/). Detailed morphology of pulmonary cysts obtained from VATS and autopsied lung specimens are described, and pathological clues for differentiating miscellaneous cystic lung disorders are discussed.

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“…Another paper published by our group in June 2020 was also added (31). Thus, 16 original studies were kept for metaanalysis (3,(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44). Their characteristics are shown in Table 4.…”

Section: Probability Of Sp In Bhdmentioning

confidence: 99%

Prevalence of Birt-Hogg-Dubé Syndrome Determined Through Epidemiological Data on Spontaneous Pneumothorax and Bayes Theorem

et al. 2021

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Background: Birt-Hogg-Dubé syndrome (BHD) is a rare inherited disorder characterized by cutaneous fibrofolliculomas, multiple pulmonary cysts, recurrent spontaneous pneumothorax (SP), and renal tumors. More than 40 years after its description, the prevalence of BHD in the general population remains unknown. This study aimed at determining the prevalence of BHD by applying the Bayes theorem of conditional probability to epidemiological data on SP.Methods: We performed a meta-analysis of published data on: (1) the probability of having BHD among patients with apparent primary SP (4 studies), (2) the incidence rate of primary SP in the general population (9 studies), and (3) the probability of experiencing a SP in BHD (16 studies). Results were corrected for SP relapses, stratified by gender and year of study publication (before and after 2000), and computed with the Bayes equation.Results: The probability of having BHD among patients with apparent primary SP was 0.09 (95% confidence interval: 0.07, 0.11) or 9%. It was 0.20 (0.14, 0.27) in women and 0.05 (0.04, 0.07) in men. The incidence rate of primary SP in the general population was 8.69 (6.58, 11.46) per 100,000 person-years (p-y). It was 3.44 (2.36, 4.99) per 100,000 p-y in women and 13.96 (10.72, 18.18) per 100,000 p-y in men, and was about 2 times higher in studies published after 2000 than in those published before 2000. The probability of experiencing at least one SP among patients with BHD was 0.43 (0.31, 0.54) or 43%, without gender difference. By combining these data in the Bayes equation, we found a prevalence of BHD in the general population of 1.86 (1.16, 3.00) per million, with values of 1.86 (1.02, 3.39) per million in men, and 1.88 (0.97, 3.63) per million in women.Conclusion: The prevalence of BHD in the general population is about 2 cases per million, without difference between genders.

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Childhood pneumothorax in Birt‐Hogg‐Dubé syndrome: A cohort study and review of the literature

Cited by 16 publications

References 37 publications

Birt–Hogg–Dubé syndrome

Birt–Hogg–Dubé syndrome

Pathology of Birt–Hogg–Dubé syndrome: A special reference of pulmonary manifestations in a Japanese population with a comprehensive analysis and review

Prevalence of Birt-Hogg-Dubé Syndrome Determined Through Epidemiological Data on Spontaneous Pneumothorax and Bayes Theorem

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