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Segmental congenital hemangiomas: Three cases of a rare entity.

Authors :
Smith, Robert J.
Metry, Denise
Deardorff, Matthew A.
Heller, Elizabeth
Grand, Katheryn L.
Iacobas, Ionela
Rubin, Adam I.
Phung, Thuy L.
Lopez‐Terrada, Dolores
Steicher, Jenna
Cahill, Anne Marie
Low, David
Treat, James R.
Source :
Pediatric Dermatology. May2020, Vol. 37 Issue 3, p548-553. 6p. 5 Color Photographs, 2 Diagrams.
Publication Year :
2020

Abstract

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
07368046
Volume :
37
Issue :
3
Database :
Academic Search Index
Journal :
Pediatric Dermatology
Publication Type :
Academic Journal
Accession number :
144299857
Full Text :
https://doi.org/10.1111/pde.14143