A PIK3CA mutation in an acquired capillary malformation.

Rosenthal, Jaclyn; Sibbald, Cathryn; Jen, Melinda; Deardorff, Matthew A; Treat, James

Rosenthal, Jaclyn; Sibbald, Cathryn; Jen, Melinda; Deardorff, Matthew A; Treat, James.

Afiliação

Rosenthal J; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Sibbald C; Section of Dermatology, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
Jen M; Section of Dermatology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Deardorff MA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Treat J; Section of Dermatology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Pediatr Dermatol ; 37(1): 246-247, 2020 Jan.

Article em En | MEDLINE | ID: mdl-31830321

ABSTRACT

ABSTRACT

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.

Assuntos

Capilares/anormalidades; Classe I de Fosfatidilinositol 3-Quinases/genética; Pele/irrigação sanguínea; Malformações Vasculares/genética; Adolescente; Biópsia; Capilares/patologia; Feminino; Humanos; Mutação; Pele/patologia; Malformações Vasculares/patologia

Palavras-chave

genetic diseases; mechanisms; vascular malformation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pele / Capilares / Malformações Vasculares / Classe I de Fosfatidilinositol 3-Quinases Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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