ArticleActa informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH2023
A Rare Case of Spontaneous Pneumothorax Recurrence 30 Years After Surgery in a Patient with Birt-Hogg-Dube Syndrome: Case Presentation and Short Review of the Literature.
Article in Acta informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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9 authors.
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Abstract
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. Conclusion: This case highlights the importance of long-term follow-up in patients with Birt-Hogg-Dube syndrome and previous pneumothorax episodes.
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