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Background  Birt-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 presentations  Two 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.    Conclusion  Although childhood occurrence of SP in BHD is rare, these two cases illustrate that BHD should be considered as cause of SP in children.

Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients