Vasileios Leivaditis, Athanasios Papatriantafyllou, Efstratios Koletsis, Francesk Mulita, Paraskevi Dedopoulou, Ioannis Panagiotopoulos, Georgios-Ioannis Verras, Andreas Anzoulas, Manfred Dahm
BACKGROUND: Birt-Hogg-Dube syndrome (BHDS), also known as Hornstein-Knickenberg syndrome is a rare, autosomal dominant genetic disorder characterized by a triad of clinical manifestations: skin fibrofolliculomas, renal tumors, and multiple pulmonary cysts. The exact incidence of BHDS syndrome is unknown. This hereditary syndrome is caused by mutations in the folliculin (FLCN) gene, located on chromosome 17p11.2, which encodes the folliculin protein. OBJECTIVE: This case report aims to highlight the importance of increased vigilance and long-term follow-up in BHDS patients, even decades after surgical intervention, to detect and manage potential pulmonary complications effectively...
June 2023: Acta Informatica Medica: AIM