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

ABSTRACT:

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,

SUBMITTER: Johannesma PC 

PROVIDER: S-EPMC4088368 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature