PIK3CA-related overgrowth spectrum (PROS): a rare case report

被引:0
|
作者
Kalo, Cedra [1 ]
Khana, Firas [2 ]
Jazmati, Aya [1 ]
Kalo, Sima [3 ]
Ishkhanian, Silva [1 ]
Kayyali, Alae [2 ]
Sawas, Taher [2 ]
机构
[1] Aleppo Univ Hosp AUH, Dept Dermatol & Venereol, Aleppo, Syria
[2] Aleppo Univ Hosp AUH, Dept Med Imaging & Diagnost Radiol, Aleppo, Syria
[3] Univ Aleppo, Fac Med, Aleppo, Syria
来源
ANNALS OF MEDICINE AND SURGERY | 2023年 / 85卷 / 05期
关键词
case report; CLOVES syndrome; computed tomography angiography; magnetic resonance imaging (MRI); PIK3CA-related overgrowth spectrum (PROS); CONGENITAL LIPOMATOUS OVERGROWTH; NEVI CLOVE-SYNDROME; VASCULAR MALFORMATIONS; ANOMALIES; DISORDER;
D O I
10.1097/MS9.0000000000000485
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Study Design:Case report. Introduction and Importance:The purpose of this study is to report an extremely rare case of PIK3CA-related overgrowth spectrum. Case Presentation:A 12-year-old boy presented with severe overgrowth in the left lower limb causing severe movement restriction and decreased quality of life. Interventions and Outcome:Episodes of myiasis were manually treated through mechanical removal and the patient was placed on rapamycin therapy for managing vascular malformations. Conclusion:CLOVES syndrome is a rare overgrowth disorder that can be confused with other overgrowth syndromes; however, clinical and imaging findings are essential for pinpointing the correct diagnosis as genetic sequencing may not always prove reliable.
引用
收藏
页码:2001 / 2006
页数:6
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