A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome

Adhikari, Nirajan; Karki, Apurwa

doi:10.1016/j.rmcr.2021.101340

Cited by 2 publications

(2 citation statements)

References 10 publications

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“…Literature reviews show that recurrent spontaneous pneumothorax can often be a presenting symptom for the diagnosis of BHDS. 12 Patients with BHDS diagnosis should undergo CT chest and pulmonology evaluation on diagnosis. Patients should be advised to limit activities that put them at considerable risk for spontaneous pneumothorax, although there is a continuous debate on the need to restrict air travel in patients with multiple pulmonary cysts.…”

Section: Discussionmentioning

confidence: 99%

Urticarial vasculitis and systemic symptoms as initial presentation of Birt-Hogg-Dubé syndrome: A case report

Babalola,

Steinwehr,

Kanchustambham

2024

SAGE Open Medical Case Reports

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Birt-Hogg-Dubé syndrome, an extremely rare genetic disorder, is characterized by the development of fibrofolliculomas, lung cysts and subsequent recurrent pneumothorax, and kidney neoplasia. This report highlights the case of a 56-year-old female with a history of right vestibular schwannoma status post stereotactic radiotherapy and vulva bartholin’s gland carcinoma who was initially evaluated by primary care for a 6-month history of intermittent, red, raised, widespread rash accompanied by fever, chills, and body aches. A punch biopsy of the rash was performed, which was notable for an urticarial tissue reaction with focal changes of leukocytoclasia and negative direct immunofluorescence. Laboratory tests, which included an autoimmune genetic and periodic fever panel, were unremarkable. Whole genome sequencing returned positive for a pathogenic variant in folliculin gene, consistent with a diagnosis of Birt-Hogg-Dubé syndrome.

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Section: Discussionmentioning

confidence: 99%

Urticarial vasculitis and systemic symptoms as initial presentation of Birt-Hogg-Dubé syndrome: A case report

Babalola,

Steinwehr,

Kanchustambham

2024

SAGE Open Medical Case Reports

View full text Add to dashboard Cite

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“…Birt–Hogg–Dubé syndrome (BHDS) is a rare autosomal dominant inherited disorder described firstly in 1977, due to the germline transmission via an autosomal dominant pattern of a mutation in folliculin ( FLCN ) gene ( 1 ). The syndrome is considered to be underdiagnosed due to variable and atypical symptoms, and disease severity can differ significantly even within the same family.…”

Section: Introductionmentioning

confidence: 99%

Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt–Hogg–Dubè Syndrome Family

et al. 2022

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Birt–Hogg–Dubé syndrome (BHDS) is a rare autosomal dominant inherited disorder caused by a mutation in folliculin (FLCN) gene transmitted via germline autosomal dominant pattern. Patients with this syndrome have an increased susceptibility to renal cell carcinoma, lung cysts, spontaneous pneumothorax, and benign skin hamartomas, and its diagnosis is not easy and consequently underestimated. Several mutations have been identified in FLCN gene, among which the majority of alterations are frameshift (insertion/deletion), nonsense, or splice-site mutations that generally produce unfunctional truncated FLCN proteins. Our aim is to present a case of a BHDS family whose proband is a 56-year-old patient who has been experiencing multiple disorders, has an FLCN genetic mutation, and has also been identified to have a pathogenic variant in BRCA2 gene. Our further purpose is to emphasize the importance of the next-generation sequencing (NGS) approach to identify potential multiple germline mutations in complex and rare oncologic disorders, allowing strict and more targeted cancer screening programs.

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A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome

Cited by 2 publications

References 10 publications

Urticarial vasculitis and systemic symptoms as initial presentation of Birt-Hogg-Dubé syndrome: A case report

Urticarial vasculitis and systemic symptoms as initial presentation of Birt-Hogg-Dubé syndrome: A case report

Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt–Hogg–Dubè Syndrome Family

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