A PIK3CA mutation in an acquired capillary malformation

被引：3

作者：

Rosenthal, Jaclyn ^{[1
]}

Sibbald, Cathryn ^{[2
]}

Jen, Melinda ^{[3
]}

Deardorff, Matthew A. ^{[4
]}

Treat, James ^{[3
]}

机构：

[1] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA

[2] Hosp Sick Children, Dept Paediat, Sect Dermatol, Toronto, ON, Canada

[3] Childrens Hosp Philadelphia, Sect Dermatol, Philadelphia, PA 19104 USA

[4] Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

来源：

PEDIATRIC DERMATOLOGY | 2020年 / 37卷 / 01期

关键词：

genetic diseases; mechanisms; vascular malformation;

D O I：

10.1111/pde.14068

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Acquired capillary malformations are rare vascular anomalies composed of dilated capillaries in the skin. We present a pediatric case of an acquired capillary malformation as a novel presentation of the PIK3CA-related overgrowth syndromes. Using next-generation sequencing, we identified a PIK3CA p.Val344Met mutation within the acquired capillary malformation with possible prognostic and therapeutic significance.

引用

页码：246 / 247

页数：2

共 5 条

[1] Expression of Follicle- Stimulating Hormone Receptor in Vascular Anomalies [J].

Maclellan, Reid A. ;

Vivero, Matthew P. ;

Purcell, Patricia ;

Kozakewich, Harry P. ;

DiVasta, Amy D. ;

Mulliken, John B. ;

Fishman, Steven J. ;

Greene, Arin K. .

PLASTIC AND RECONSTRUCTIVE SURGERY, 2014, 133 (03) :344E-351E

[2] Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP [J].

Mirzaa, Ghayda M. ;

Riviere, Jean-Baptiste ;

Dobyns, William B. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2013, 163C (02) :122-130

[3] Vascular Anomalies Caused by Abnormal Signaling within Endothelial Cells: Targets for Novel Therapies [J].

Nguyen, Ha-Long ;

Boon, Laurence M. ;

Vikkula, Miikka .

SEMINARS IN INTERVENTIONAL RADIOLOGY, 2017, 34 (03) :233-238

[4] Heredity of port-wine stains: Investigation of families without a RASA1 mutation [J].

Rubin, Agneta Troilius ;

Lauritzen, Edgar ;

Ljunggren, Bo ;

Revencu, Nicole ;

Vikkula, Mikka ;

Svensson, Ake .

JOURNAL OF COSMETIC AND LASER THERAPY, 2015, 17 (04) :204-208

[5] Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations [J].

Zenner, Kaitlyn ;

Cheng, Chi Vicky ;

Jensen, Dana M. ;

Timms, Andrew E. ;

Shivaram, Giridhar ;

Bly, Randall ;

Ganti, Sheila ;

Whitlock, Kathryn B. ;

Dobyns, William B. ;

Perkins, Jonathan ;

Bennett, James T. .

JCI INSIGHT, 2019, 4 (21)

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