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

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 manifes...

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Bibliographic Details
Published in:BMC pediatrics 2014-07, Vol.14 (1), p.171-171, Article 171
Main Authors: Johannesma, Paul C, van den Borne, Ben E E M, Gille, Johannes J P, Nagelkerke, Ad F, van Waesberghe, JanHein T M, Paul, Marinus A, van Moorselaar, R Jeroen A, Menko, Fred H, Postmus, Pieter E
Format: Article
Language:English
Subjects:
Adolescent
Adults
Age
Birt-Hogg-Dube Syndrome - complications
Birt-Hogg-Dube Syndrome - diagnosis
Case Report
Catheters
Congenital diseases
Connective tissue
Cysts
Emergency medical care
Families & family life
Family medical history
Genetic testing
Humans
Kidney cancer
Male
Males
Mutation
Ostomy
Patients
Pediatrics
Pneumothorax
Pneumothorax - diagnostic imaging
Pneumothorax - etiology
Proto-Oncogene Proteins - genetics
Radiography
Skin
Thoracic surgery
Tumor Suppressor Proteins - genetics
White people
Young Adult
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Summary: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. 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.
ISSN:1471-2431
1471-2431
DOI:10.1186/1471-2431-14-171