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

被引：1

作者：

Cossio, Maria-Laura ^{[1
,2
,10
]}

Rodriguez, Josefina ^{[2
]}

Flores, Juan Carlos ^{[3
,4
]}

De Barbieri, Florencia ^{[5
]}

Flores, Alvaro ^{[5
,6
]}

Marin, Jose ^{[7
]}

Florin, Carla ^{[8
]}

Cuevas, Francisco ^{[9
]}

Gutierrez, Monserrat ^{[4
]}

机构：

[1] Pontificia Univ Catolica Chile, Fac Med, Dept Dermatol, Santiago, Chile

[2] Hosp Dr Sotero del Rio, Dept Dermatol, Santiago, Chile

[3] Pontificia Univ Catolica Chile, Sch Med, Div Pediat, Santiago, Chile

[4] Hosp Dr Sotero del Rio, Dept Pediat, Santiago, Chile

[5] Pontificia Univ Catolica Chile, Fac Med, Dept Radiol, Santiago, Chile

[6] Hosp Dr Sotero del Rio, Dept Pediat Radiol, Santiago, Chile

[7] Hosp Dr Sotero del Rio, Dept Pediat Neurol, Santiago, Chile

[8] Hosp Dr Sotero del Rio, Dept Pediat Plast Surg, Santiago, Chile

[9] Hosp Josefina Martinez, Dept Pediat, Santiago, Chile

[10] Pontificia Univ Catolica Chile, Fac Med, Dept Dermatol, 362 Diag Paraguay,6th Floor, Santiago, Chile

来源：

PEDIATRIC DERMATOLOGY | 2024年 / 41卷 / 04期

关键词：

pharmacotherapy; vascular anomalies; vascular malformations;

D O I：

10.1111/pde.15582

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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.

引用

页码：714 / 717

页数：4

共 10 条

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Garreta Fontelles, Gemma
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Parker, Victoria E. R.
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HISTOPATHOLOGY, 2020, 76 (04) : 540 - 549
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Fereydooni, Arash
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