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

BMC Pediatrics

Pieter E Postmus²  Fred H Menko³  R Jeroen A van Moorselaar⁶  Marinus A Paul⁷  JanHein TM van Waesberghe⁵  Ad F Nagelkerke¹  Johannes JP Gille⁸  Ben EEM van den Borne⁴  Paul C Johannesma² 

[1] Department of Paediatrics, VU University Medical Center, Amsterdam, The Netherlands;Department of Pulmonary Diseases, VU University Medical Center, PO Box 7057, 1007, MB Amsterdam, The Netherlands;Family Cancer Clinic, Antoni van Leeuwenhoek, The Netherlands Cancer Institute, Amsterdam, The Netherlands;Department of Pulmonary Diseases, Catharina Hospital, Eindhoven, The Netherlands;Department of Radiology, VU University Medical Center, Amsterdam, The Netherlands;Department of Urology, VU University Medical Center, Amsterdam, The Netherlands;Department of Thoracic Surgery, VU University Medical Center, Amsterdam, The Netherlands;Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands

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

Others  :  1138604
DOI  :  10.1186/1471-2431-14-171

 received in 2014-02-19, accepted in 2014-06-27,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Johannesma et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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