Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb.

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2024-07-01 Epub Date: 2024-03-05 DOI:10.1111/pde.15582

María-Laura Cossio, Josefina Rodríguez, Juan Carlos Flores, Florencia De Barbieri, Álvaro Flores, José Marín, Carla Florin, Francisco Cuevas, Monserrat Gutiérrez

引用次数: 0

Abstract

PIK3CA-related overgrowth spectrum (PROS) encompasses different clinical entities caused by somatic activating mutations in PIK3CA. Among PROS, CLOVES syndrome represents a severe phenotype with poor survival rate. We present the case of a 4-month-old girl with CLOVES syndrome successfully treated with alpelisib, a PIKC3A inhibitor.

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患有严重 PIK3CA 相关生长过度谱系障碍的四个月大婴儿成功接受了 alpelisb 治疗。

PIK3CA 相关生长过度谱（PROS）包括由 PIK3CA 体细胞激活突变引起的不同临床实体。在PROS中，CLOVES综合征是一种生存率低的严重表型。我们介绍了一例 4 个月大的 CLOVES 综合征女孩的病例，她在接受 PIKC3A 抑制剂 alpelisib 治疗后获得成功。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pediatric Dermatology 医学-皮肤病学

CiteScore

3.20

自引率

6.70%

发文量

269

审稿时长

1 months

期刊介绍： Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.