Article
Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients.
BMC pediatrics - 3 Jul 2014
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
Abstract excerpt
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...
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