Segmental congenital hemangiomas: Three cases of a rare entity
| العنوان: | Segmental congenital hemangiomas: Three cases of a rare entity |
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| المؤلفون: | James R. Treat, Anne Marie Cahill, Matthew A. Deardorff, Dolores Lopez-Terrada, Thuy L. Phung, Ionela Iacobas, Denise W. Metry, David W. Low, Robert J. Smith, Jenna Steicher, Katheryn Grand, Adam I. Rubin, Elizabeth Heller |
| المصدر: | Pediatric Dermatology. 37:548-553 |
| بيانات النشر: | Wiley, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Pathology, medicine.medical_specialty, GNA11, medicine.diagnostic_test, business.industry, Dermatology, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, In utero, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), medicine, Involution (medicine), Congenital Hemangioma, business, Heterotaxy, GNAQ, Genetic testing |
| الوصف: | 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. |
| تدمد: | 1525-1470 0736-8046 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::44d91dd92e4a2d3b27b833610db4683bTest https://doi.org/10.1111/pde.14143Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi...........44d91dd92e4a2d3b27b833610db4683b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15251470 07368046 |
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