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

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 clin...

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Detalles Bibliográficos
Autores principales: Johannesma, Paul C, van den Borne, Ben EEM, Gille, Johannes JP, Nagelkerke, Ad F, van Waesberghe, JanHein TM, Paul, Marinus A, van Moorselaar, R Jeroen A, Menko, Fred H, Postmus, Pieter E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4088368/
https://www.ncbi.nlm.nih.gov/pubmed/24994497
http://dx.doi.org/10.1186/1471-2431-14-171
Descripción
Sumario: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.

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