A case of large airway and orbital hemangiomas with facial capillary malformation

Infantile hemangiomas (IHs) are the most common pediatric vascular tumors, although their genetic etiology is largely unknown. Congenital capillary malformations (CMs) are associated with known somatic pathogenic variants, including GNAQ, GNA11, PIK3CA, and PIK3R1. Co‐occurrence of a facial CM such...

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Veröffentlicht in:Pediatric dermatology 2023-11, Vol.40 (6), p.1142-1144
Hauptverfasser: Kreher, Margaret Ann, Siegel, Liza H., Shmuylovich, Leonid
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container_title Pediatric dermatology
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creator Kreher, Margaret Ann
Siegel, Liza H.
Shmuylovich, Leonid
description Infantile hemangiomas (IHs) are the most common pediatric vascular tumors, although their genetic etiology is largely unknown. Congenital capillary malformations (CMs) are associated with known somatic pathogenic variants, including GNAQ, GNA11, PIK3CA, and PIK3R1. Co‐occurrence of a facial CM such as port wine stain and IH is not associated with any recognized vascular anomaly syndromes and rarely reported in the literature. We describe a case of a 5‐week‐old female patient with a large facial CM and extensive IHs of the lower lip, airway, and orbit who presented with airway compromise and responded to propranolol therapy.
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subjects airway obstruction
Case reports
Congenital defects
Congenital diseases
Hemangioma
Pediatrics
port‐wine stain
Propranolol
Respiratory tract
Skin diseases
vascular malformations
Vein & artery diseases
title A case of large airway and orbital hemangiomas with facial capillary malformation
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