Resumen

OSEJO BETANCOURT, Miguel et al. Birt-Hogg-Dubé Syndrome: Lung Involvement in 2 cases. Rev. am. med. respir. [online]. 2022, vol.22, n.3, pp.309-313. ISSN 1852-236X.  http://dx.doi.org/10.56538/nzae4761.

The Birt-Hogg-Dubé syndrome is a rare autosomal dominant disease caused by the pathogenic mutation of the folliculin gene, which is mainly expressed in three organs that include the lung, the skin and the kidney, and produces lung cysts, and renal and skin tumors. From the respiratory point of view, it doesn’t have many symptoms, but cysts have high risk of pneumothorax, so it is indispensable to carry out the correct radiological semiology of the cysts for a timely diagnosis. The most important tumors are the renal, because they include several types of renal carcinomas; that is why they require strict follow-up and, in many cases, surgery. We present two cases of patients with this syndrome: one confirmed by the genetic mutation, and the other one by the histological confirmation of fibrofolliculoma, both major criteria for the diagnosis of this disease. The early diagnosis of this entity is of fundamental importance, according to what has been previously presented, so we conduct this review with a broad discus sion about lung involvement, the radiological semiology of the cysts, and diagnostic criteria.

Palabras clave : Birt-Hogg-Dube Syndrome; Pneumothorax; Carcinoma, Renal Cell; Tomography.

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