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家族性多发性脂肪瘤综合病例报告

A Comprehensive Case Report on Familial Multiple Lipomatosis.

作者信息

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

机构信息

Karachi Medical and Dental College Karachi Pakistan.

Ziauddin Medical University Karachi Pakistan.

出版信息

Clin Case Rep. 2024 Nov 29;12(12):e9664. doi: 10.1002/ccr3.9664. eCollection 2024 Dec.

Abstract

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.

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疾病,其特征是主要在躯干和四肢逐渐出现有包膜的结节。其遗传基础与HMGA - 2基因过度表达有关。该病通过临床病史、超声检查结果和组织学研究进行诊断,治疗主要包括手术切除。本病例报告重点介绍了一名38岁男性FML的临床特征、诊断挑战及治疗情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3456/11606927/47c7545edfdc/CCR3-12-e9664-g001.jpg

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