家族性多发性脂肪瘤病1例综合报道

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL Clinical Case Reports Pub Date : 2024-11-29 DOI:10.1002/ccr3.9664

Fatima Ali Raza, Syed Abdullah Monawwer, Muhammad Husnain, Darja Golubeva, Laveeza Fatima, Md Ariful Haque

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引用次数: 0

摘要

家族性多发性脂肪瘤病（FML）是一种罕见的常染色体显性遗传病，其特征是主要在躯干和四肢上出现囊性结节的进行性发展。其遗传基础与HMGA-2基因过表达有关。该病通过临床病史、超声检查和组织学检查诊断，治疗主要包括手术切除。本病例报告强调了一位38岁男性FML的临床特征、诊断挑战和治疗。

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A Comprehensive Case Report on Familial Multiple Lipomatosis

Familial multiple lipomatosis (FML) is a rare autosomal dominant disorder characterized by the progressive development of encapsulated nodules predominantly on the trunk and extremities. Its genetic basis is linked to HMGA-2 gene over-expression. The condition is diagnosed via clinical history, ultrasound findings, and histological studies, and management mainly comprises surgical excision. This case report highlights the clinical characteristics, diagnostic challenges, and management of FML in a 38-year-old male.

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来源期刊

Clinical Case Reports MEDICINE, GENERAL & INTERNAL-

自引率

14.30%

发文量

1268

审稿时长

13 weeks

期刊介绍： Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).