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  • Title: [Spontaneous pneumothorax as the first manifestation of a hereditary condition with an increased renal cancer risk].
    Author: Johannesma PC, Lammers JW, van Moorselaar RJ, Starink TM, Postmus PE, Menko FH.
    Journal: Ned Tijdschr Geneeskd; 2009; 153():A581. PubMed ID: 19857281.
    Abstract:
    Spontaneous pneumothorax can be due to Birt-Hogg-Dubé syndrome (BHD syndrome), an autosomal dominant predisposition for fibrofolliculomas, multiple lung cysts, pneumothorax and renal cancer. The syndrome is the result of germline mutations in the FLCN (folliculin) gene. Its clinical presentation is highly variable. Consequently, this syndrome is probably under-diagnosed. An illustrative kindred is presented in which the index patient, a man aged 26, had recurrent episodes of pneumothorax without apparent skin lesions or renal abnormalities. He had bilateral mostly basally-located lung cysts. There was a family history of fibrofolliculomas, lung cysts, pneumothorax and clear cell renal cancer. Recognition of BHD is important since carriers of the mutation can be offered surveillance for early detection and treatment of renal cancer.
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