A Case of Birt-Hogg-Dubé, Presenting With Recurrent Pneumothorax, Managed With Intrabronchial Valve Placement

Monserrate, Angel; Al-Jaghbeer, Mohammed; Marcano, Maria Cirino

doi:10.1097/lbr.0000000000000328

Cited by 1 publication

(1 citation statement)

References 8 publications

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“…The 287 articles reviewed contain a total of 33 cases of childhood/adolescence pneumothorax in BHD (Bessis et al., ; César, Baudrier, Mota, & Azevedo, ; Chung, Ramos‐Caro, Beers, Ford, & Flowers, ; Demir & Cobanoglu, ; Ding et al., ; Furuya et al., ; Gunji et al., ; Gupta et al., ; Houweling et al., ; Johannesma, van den Borne, et al., 2014; Johannesma et al.,; Kolb, King, & Pearse, ; Kunogi et al., ; Li, Ning, He, & Gong, ; Maffe et al., ; Monserrate, Al‐Jaghbeer, & Cirino Marcano, ; Predina, Kotloff, Miller, & Singhal, ; So, ; Toro et al., ). Twelve of these 33 cases are described in case reports and the remaining 21 cases are reported as parts of larger cohort studies.…”

Section: Resultsmentioning

confidence: 99%

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

Geilswijk

Bendstrup

Madsen

et al. 2018

Molec Gen & Gen Med

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BackgroundBirt‐Hogg‐Dubé syndrome (BHD) is an autosomal dominantly inherited cancer predisposition syndrome associated with an increased risk of spontaneous pneumothorax (SP) and renal cell carcinoma in the adult population. Recent studies suggest that BHD accounts for up to 10% of all SP in adults and BHD in children with SP have been reported.MethodsTo explore to what extent BHD is the cause of childhood pneumothorax, we studied a Danish BHD cohort consisting of 109 cases from 22 families. Clinical data was gathered by review of medical records. A systematic literature search concerning childhood and adolescence pneumothorax in BHD was performed and identified publications reviewed.ResultsIn our cohort, three of 109 BHD cases experienced childhood pneumothorax, corresponding to a prevalence of 3%. Reviewing the literature, data regarding more than 800 BHD cases were covered. Only seven previously published cases of childhood pneumothorax in BHD were identified.ConclusionOur findings suggest that BHD is likely the cause of a larger subset of childhood pneumothoraces than hitherto recognized. Awareness of BHD as a cause of childhood pneumothorax needs to be raised to provide patients and relatives with the possibility of specialized management of SP and regular renal cancer surveillance.

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