An 18-year-old man with recurrent pneumothorax since he was 10-year-old.
An 18-year-old male patient was referred to the department of pediatric pulmonology with a history of recurrent pneumothorax. Initial pneumothorax occurred at the age of 10. Following diagnosis of congenital lobar emphysema, he had five episodes of pneumothorax and subsequently underwent right-lower lobe anterobasal segmentectomy. Based on thoracic computed tomography (CT) and clinical manifestation, Birt-Hogg-Dube (BHD) syndrome was suspected and confirmed following genetic testing. BHD syndrome is a rare tumor predisposition syndrome first described in 1977. The syndrome is characterized by skin fibrofolliculomas, lung cysts, recurrent spontaneous pneumothorax, and renal cell cancer. The underlying cause is a germline mutation in the folliculin (FLCN) gene located on chromosome 17p11.2. Clinical manifestation usually appears after the age of 20 years. In this case, we report a case of BHD with episodes of recurrent pneumothorax, the first of which occurred at the age of 10 years. Pulmonologists should be aware of this syndrome in patients with a personal and family history of pneumothoraces and CT findings of multiple pulmonary cysts as additional evaluation and testing may be warranted. Pediatr Pulmonol. 2016;51:E41-E43. © 2016 Wiley Periodicals, Inc.
Department of Paediatrics, Ankara University Faculty of Medicine, Cebeci/Ankara, Ankara, 06100, Turkey.
Meral
M
Demir
Department of Paediatric Pulmonology, Ankara University Faculty of Medicine, Ankara, Turkey.
Nazan
N
Çobanoğlu
D000293:Adolescent; D058249:Birt-Hogg-Dube Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D003951:Diagnostic Errors; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D008168:Lung / Q000000981:diagnostic imaging*; D008297:Male; D011030:Pneumothorax / Q000209:etiology*; D011518:Proto-Oncogene Proteins / Q000235:genetics; D011656:Pulmonary Emphysema / Q000151:congenital* / Q000175:diagnosis; D012008:Recurrence; D014057:Tomography, X-Ray Computed; D025521:Tumor Suppressor Proteins / Q000235:genetics
C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins
Birt-Hogg-Dube syndrome; FLCN gene mutation; reccurrent pneumothorax