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Segmental congenital hemangiomas: Three cases of a rare entity
Author(s) -
Smith Robert J.,
Metry Denise,
Deardorff Matthew A.,
Heller Elizabeth,
Grand Katheryn L.,
Iacobas Ionela,
Rubin Adam I.,
Phung Thuy L.,
LopezTerrada Dolores,
Steicher Jenna,
Cahill Anne Marie,
Low David,
Treat James R.
Publication year - 2020
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14143
Subject(s) - medicine , gnaq , involution (esoterism) , in utero , glut1 , mutation , cardiology , pathology , fetus , glucose transporter , pregnancy , genetics , biology , gene , consciousness , neuroscience , insulin
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.