Abstract
BackgroundBirt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominantly inherited disorder caused by germline mutations in the folliculin (FLCN) gene. Clinical manifestations of BHD include skin fibrofolliculomas, renal cell cancer, lung cysts and (recurrent) spontaneous pneumothorax (SP). All clinical manifestations usually present in adults > 20 years of age.Case presentationsTwo non-related patients with (recurrent) pneumothorax starting at age 14 accompanied by multiple basal lung cysts on thoracic CT underwent FLCN germline mutation analysis. A pathogenic FLCN mutation was found in both patients confirming suspected BHD. The family history was negative for spontaneous pneumothorax in both families.ConclusionAlthough childhood occurrence of SP in BHD is rare, these two cases illustrate that BHD should be considered as cause of SP in children.
Highlights
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominantly inherited disorder caused by germline mutations in the folliculin (FLCN) gene
The incidence of blebs and bullae detected on Computed tomography (CT) in children with spontaneous pneumothorax (SP) is between 45% and 100% [9]
As SP in the paediatric population is relatively rare, BHD should be considered as underlying cause, especially when there is a positive family history for pneumothorax, skin fibrofolliculomas or renal cell cancer
Summary
Childhood occurrence of SP in BHD is rare, these two cases illustrate that BHD should be considered as cause of SP in children.
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