Evidence map›Paper›PMID 41376734›Full record

ArticleCureus2025

Asynchronous Bilateral Pneumothorax in a Patient With Birt-Hogg-Dubé Syndrome: A Case Report.

Anna Eleftheriou, George Benakis, Anna Orfanidou, Sofia Theotokoglou, Dimitrios Lioumpas

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In one paragraph

Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Anna EleftheriouDepartment of Thoracic Surgery, Agios Panteleimon General Hospital Of Nikaia, Athens, GRC.
George BenakisDepartment of Thoracic Surgery, Agios Panteleimon General Hospital Of Nikaia, Athens, GRC.
Anna OrfanidouDepartment of Pathology, National and Kapodistrian University of Athens School of Medicine, Attikon General University Hospital, Athens, GRC.
Sofia TheotokoglouDepartment of Dermatology and Venereology, National and Kapodistrian University of Athens School of Medicine, Attikon General University Hospital, Athens, GRC.
Dimitrios LioumpasDepartment of Thoracic Surgery, Agios Panteleimon General Hospital Of Nikaia, Athens, GRC.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant genetic disorder caused by mutations in the Folliculin (FLCN) gene and characterized by cutaneous fibrofolliculomas, multiple pulmonary cysts, spontaneous pneumothorax, and renal tumours. Pulmonary involvement is frequent and may represent the earliest manifestation of BHD. Due to its variable presentation, diagnosis is often delayed or missed. We report the case of a 38-year-old woman with a known history of multiple sclerosis who presented with recurrent, asynchronous, bilateral, spontaneous pneumothoraces over a 15-month period, including during pregnancy. Imaging revealed bilateral apical lung air-filled cysts. Management included conservative treatment, chest tube insertion, and ultimately bilateral video-assisted thoracoscopic surgery (VATS) bullectomy and apical pleurectomy. During a multidisciplinary evaluation during pregnancy, numerous white to skin-coloured waxy papules were noticed, prompting a dermatologic consultation. The diagnosis of BHD syndrome was confirmed via skin biopsy. Family screening identified the same condition in her mother. Renal imaging showed no abnormalities, but long-term surveillance was advised. This case highlights the potential for misdiagnosis or delayed diagnosis of BHD syndrome in patients presenting with spontaneous pneumothorax. A detailed family history, early recognition, and multidisciplinary evaluation are essential for early and appropriate management.

Indexed as

birt-hogg-dubé syndrome (bhds)diagnostic genetic testingflcn genepulmonary cystsspontaneous pneumothorax

Identifiers

PMID41376734
PMCPMC12686837

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