Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare, inherited autosomal-dominant disorder characterized by the development of cutaneous lesions, renal tumors, pulmonary cysts, and spontaneous pneumothorax. The gene responsible for BHDS is located on the short arm of chromosome 17 (17p11.2) and codes for the protein folliculin, which is believed to be an oncogene suppressor protein.
Methods: We reviewed currently published literature on the main characteristics of BHDS.
Results: Pulmonary cysts and spontaneous pneumothorax are often the presenting manifestations that lead to a final diagnosis in family members affected by the syndrome.
Conclusions: Certain imaging characteristics of pulmonary cysts, including size and location, can suggest the diagnosis of BHDS based on chest computed tomography alone. The main concern in patients with BHDS is the increased risk of renal carcinoma. The aim of this review is to describe the main pathological, clinical, and imaging aspects of BHDS, ranging from its genetic basis to treatment, with emphasis on pulmonary involvement.
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http://dx.doi.org/10.1016/j.rmed.2014.11.008 | DOI Listing |
Indian J Orthop
January 2025
Department of Orthopedics and Traumatology, Abdurrahman Yurtaslan Training and Research Hospital, Ankara, Turkey.
Background: Soft-tissue sarcoma involving the popliteal fossa remains challenging because it is difficult to achieve wide margins with limb salvage in this location. Adjuvant therapy is frequently necessary, and limb function can be adversely affected. We reviewed our experience with these tumors.
View Article and Find Full Text PDFTer Arkh
December 2024
Medsi group Joint Stock Company.
Echinococcosis or hidatid disease is a parasitic illness which is caused by the most common pathogens , and . When the agent gets into the organism, it penetrates the organ and forms a cyst. Cysts are located more often (75%) in the liver where they exist without any clinical manifestation.
View Article and Find Full Text PDFPediatr Neonatol
December 2024
Division of Fetal Medicine, Center for Maternal-Fetal, Neonatal and Reproductive Medicine at the National Center for Child Health and Development, Tokyo, Japan.
Introduction: Type 1 congenital pulmonary airway malformation (CPAM) is characterized by large, dilated cysts that rapidly expand due to aeration immediately after birth, often necessitating surgical resection. In atypical cases of CPAM type 1, fetal T2-weighted magnetic resonance imaging (MRI) reveals a low-intensity solid lung mass containing multiple irregular T2 high-intensity areas.
Methods: Data were retrospectively collected for infants with atypical CPAM type 1 born at our hospital between March 2002 and December 2022.
Medicine (Baltimore)
December 2024
Department of Gastroenterology, The Second Affiliated Hospital of Nanchang University, Jiangxi, China.
Rationale: Pancreaticopleural fistula (PPF) is an infrequent etiology of pleural effusion, characterized by nonspecific thoracic symptoms, which often leads to misdiagnosis and subsequent severe complications. Consequently, early diagnosis is crucial for effective management and the prevention of adverse outcomes. This report presents a rare case of PPF causing bilateral pleural effusions, aiming to enhance clinical recognition of this condition.
View Article and Find Full Text PDFAnn Vasc Surg
December 2024
Unit of Vascular Surgery, Department of Cardiovascular and Pulmonary Sciences - Università Cattolica del Sacro Cuore, Rome, Italy; Unit of Vascular Surgery, Department of Cardiovascular Sciences - Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
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