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Thyroid Gland Diffuse Lipomatosis: A Case Study and Comprehensive Literature Review.
J Clin Med
October 2024
Department of Endocrine Surgery, Genesis Hospital, 54301 Thessaloniki, Greece.
Diffuse lipomatosis of the thyroid (DLT) is an uncommon condition where mature fat cells infiltrate the thyroid gland, disrupting its normal structure. Although rare, it typically manifests as neck enlargement or symptoms of compression, including breathing difficulties, trouble swallowing, and voice changes, which can complicate diagnosis. This report presents a case of a 61-year-old woman with DLT, who exhibited a multinodular goiter and progressive neck swelling, and examines 53 additional cases from the existing literature.
View Article and Find Full Text PDFPhenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA.
Arch Endocrinol Metab
October 2024
Hospital das Clínicas Faculdade de Medicina Universidade de São Paulo São PauloSP Brasil Grupo de Diabetes Monogênico, Unidade de Endocrinologia Genética (LIM25), Unidade de Diabetes, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Familial partial lipodystrophy (FPLD) is a very rare genetic disease characterized by insulin resistance due to a loss of subcutaneous fat from the extremities together with a progressive storage of fat around the face and neck and inside the abdomen. In over 50% of cases, molecular genetic testing reveals pathogenic variants in two nuclear genes, LMNA and PPARG. The case reported here refers to a woman phenotypically diagnosed with FPLD, who presented with diabetes and multiple cervical lipomatosis and in whom no variant had been found in the nuclear genes classically associated with this syndrome that could explain her phenotype.
View Article and Find Full Text PDFVascular Anomalies and Congenital Infiltrating Lipomatosis May Affect Dental Maturation and Development - a Case Control Study.
Cleft Palate Craniofac J
September 2024
Cleft Palate and Craniofacial Centre, Department of Plastic Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Objective: Vascular anomalies are often associated with hypertrophy and asymmetry of soft tissues and bony structures. The aim of this retrospective cross-sectional radiographic study was to evaluate dental maturation and development in patients with facial vascular anomalies and congenital infiltrating lipomatosis.
Design: A sample of 342 patients with different vascular anomalies or congenital infiltrating lipomatosis involving the head and neck area was narrowed down to 31 patients with dental panoramic radiographs taken in the mixed dentition.
Madelung disease with postoperative priapism and multiple venous thromboses: case report and literature review.
Front Cardiovasc Med
August 2024
Department of Plastic and Burns Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Article Synopsis
- Madelung disease is a rare metabolic disorder characterized by the abnormal accumulation of adipose tissue in various body areas, primarily affecting individuals from Mediterranean and Eastern European backgrounds, with significantly lower prevalence in Asia.
- The condition is associated with several comorbidities, including diabetes and polyneuropathy, and can lead to severe complications, particularly postoperative hypercoagulability, which increases the risk of serious issues like venous thrombosis and pulmonary embolism.
- This study presents a specific case of type II Madelung disease with significant complications during surgery, while also reviewing existing literature to highlight the disease's features and potential treatment methods, aiming to improve future clinical approaches and reduce surgery-related risks.
Etiology and Differential Diagnoses of Nuchal Tumors: A Study of 61 Cases.
In Vivo
August 2024
Department of Otorhinolaryngology, Head and Neck Surgery, University Medical Centre Ruppin Brandenburg (ukrb), Brandenburg Medical School, Neuruppin, Germany;
Background/aim: Compared to other cervical localizations, masses of the nuchal region are rare in the clinical practice of otolaryngologists. This study presents the relevant etiologies of nuchal tumors.
Patients And Methods: This study included 61 cases (5.
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