Article
Pulmonary features of Birt-Hogg-Dubé syndrome: cystic lesions and pulmonary histiocytoma.
Respiratory medicine - 1 May 2011
Tomassetti S, Carloni A, Chilosi M, Maffè A, Ungari S, Sverzellati N, Gurioli C, Casoni G, Romagnoli M, Gurioli C, Ravaglia C, Poletti V
Abstract excerpt
BACKGROUND: to describe clinical, radiologic and pathologic features of lung lesions in Birt-Hogg-Dubè syndrome (BHDS) (MIM 135150). METHOD: review of 12 patients of BHDS from 3 unrelated Italian families evaluated at GB Morgagni Hospital, Forlì, from 2005 to 2010. RESULTS: mean age (±SD) at diagnosis was 44.6 (±16) years, 8 (66%) were male. All three index cases presented with a history of recurrent pneumothorax...
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