Segmental congenital hemangiomas: Three cases of a rare entity.
GNAQ
congenital hemangioma
embolization
pulse dye laser
vascular anomalies
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
May 2020
May 2020
Historique:
pubmed:
8
4
2020
medline:
15
5
2021
entrez:
8
4
2020
Statut:
ppublish
Résumé
Congenital hemangiomas (CHs) are unusual and diverse tumors distinguished from infantile hemangiomas by being largely developed at birth and glucose transporter (GLUT1)-negative. We describe three infants who presented in utero or at birth with segmentally distributed vascular tumors that were GLUT1-negative, had histology compatible with congenital hemangioma, and exhibited spontaneous clinical involution. One of the three patients had high-output cardiac failure and was found to have a mutation in GNAQ (c.626A>c, p.Gln209Pro); another had high-output cardiac failure, heterotaxy, and transient hematologic abnormalities and was found to have a mutation in GNA11 (c.626_627delinsCC, p.Gln209Pro). In addition to describing a novel segmental pattern of congenital hemangioma variant with genetic correlations, these cases illustrate the utility of targeted genetic testing to elucidate the exact mutation and thus classification of vascular tumors.
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
548-553Informations de copyright
© 2020 Wiley Periodicals, Inc.
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