Laura Maté-Miguel 1, Pablo Pazos-Lama 2, Sandra L. Pardo-Prieto 1, Baltasar Liebert-Álvarez 1, Ramón V. Verdú 1, Cristina Cavestany-García-Matres 1
1 Servicio de Cirugía Torácica, Hospital Universitario La Paz, Madrid, España; 2 Servicio de Radiodiagnóstico, Hospital Universitario La Paz, Madrid, España
Laura Maté-Miguel, Pablo Pazos-Lama, Sandra L. Pardo-Prieto, Baltasar Liebert-Álvarez, Ramón V. Verdú, Cristina Cavestany-García-Matres
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*Correspondence: Baltasar Liebert-Álvarez, Email not available
Birt-Hogg-Dubé syndrome is a rare autosomal dominant genodermatosis caused by germline mutations in the FLCN gene, which is involved in the mTOR pathway. It is characterized by a triad of cutaneous, pulmonary, and renal manifestations, with an increased risk of spontaneous pneumothorax and renal neoplasia. We report two genetically confirmed cases of the syndrome: a 75-year-old woman with fibrofolliculomas, bilateral pulmonary cysts, and renal cystic lesions, and a 32-year-old man with a positive family history, facial skin lesions, and multiple pulmonary cysts. In both cases, pathogenic variants in FLCN were identified, confirming the diagnosis of Birt-Hogg-Dubé syndrome. This syndrome should be suspected in patients presenting with characteristic cutaneous lesions and pulmonary cystic findings. Genetic testing is essential for confirmation, and multidisciplinary follow-up is required to prevent renal and respiratory complications.
