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Open Access Case report

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

Paul C Johannesma1, Ben EEM van den Borne2, Johannes JP Gille3, Ad F Nagelkerke4, JanHein TM van Waesberghe5, Marinus A Paul6, R Jeroen A van Moorselaar7, Fred H Menko8 and Pieter E Postmus1*

Author Affiliations

1 Department of Pulmonary Diseases, VU University Medical Center, PO Box 7057, 1007, MB Amsterdam, The Netherlands

2 Department of Pulmonary Diseases, Catharina Hospital, Eindhoven, The Netherlands

3 Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands

4 Department of Paediatrics, VU University Medical Center, Amsterdam, The Netherlands

5 Department of Radiology, VU University Medical Center, Amsterdam, The Netherlands

6 Department of Thoracic Surgery, VU University Medical Center, Amsterdam, The Netherlands

7 Department of Urology, VU University Medical Center, Amsterdam, The Netherlands

8 Family Cancer Clinic, Antoni van Leeuwenhoek, The Netherlands Cancer Institute, Amsterdam, The Netherlands

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BMC Pediatrics 2014, 14:171  doi:10.1186/1471-2431-14-171

Published: 3 July 2014



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.


Although childhood occurrence of SP in BHD is rare, these two cases illustrate that BHD should be considered as cause of SP in children.

Birt-Hogg-Dubé syndrome; BHD; Folliculin; FLCN; Spontaneous pneumothorax; Renal cell cancer; Fibrofolliculomas