| H01482 | |
| H number | H01482 |
| Name | Infantile hemangioma |
| Description | Infantile hemangiomas (IH) are neoplastic proliferations of vascular endothelial cells (ECs), characterized by a period of growth after birth, and eventual spontaneous involution. Forty percent of the lesions are associated with complications such as ulceration, bleeding, infection, pain, cardiac failure, airway compromise or eye impairment. Pathogenesis of IH is still shrouded in mystery even though various theories have been postulated to explain its origin. Recent studies provide strong evidence for the conclusion that the VEGF receptor 2 (VEGFR2) and Tumor Endothelial Marker 8 (TEM8) mutations represent risk factor mutations for hemangioma formation. In the proliferating phase, constitutive VEGFR2 signaling in ECs from hemangioma lesions affects downstream processes, including EC proliferation and migration, providing a mechanistic explanation for the rapid endothelial proliferation seen in hemangioma. |
| Category | Neoplasm |
| Network | - |
| Gene | TEM8 [HSA:84168] [KO:K20909] VEGFR2 [HSA:3791] [KO:K05098] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Propranolol hydrochloride [DR:D00483] |
| Comment | - |
| Other DBs | ICD-11: 2E81.2Y ICD-10: D18.00 MeSH: D006391 OMIM: 602089 |
| Reference | PMID:19190505 AUTHORS Boye E, Jinnin M, Olsen BR TITLE Infantile hemangioma: challenges, new insights, and therapeutic promise. JOURNAL J Craniofac Surg 20 Suppl 1:678-84 (2009) DOI:10.1097/SCS.0b013e318193d6c1 PMID:19367160 AUTHORS Boye E, Olsen BR TITLE Signaling mechanisms in infantile hemangioma. JOURNAL Curr Opin Hematol 16:202-8 (2009) DOI:10.1097/MOH.0b013e32832a07ff PMID:23668474 AUTHORS Greenberger S, Bischoff J TITLE Pathogenesis of infantile haemangioma. JOURNAL Br J Dermatol 169:12-9 (2013) DOI:10.1111/bjd.12435 PMID:18931684 AUTHORS Jinnin M, Medici D, Park L, Limaye N, Liu Y, Boscolo E, Bischoff J, Vikkula M, Boye E, Olsen BR TITLE Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma. JOURNAL Nat Med 14:1236-46 (2008) DOI:10.1038/nm.1877 PMID:17478771 AUTHORS Drut R, Altamirano E TITLE Endothelial cells of intramuscular (infantile) hemangioma express glut1. JOURNAL Int J Surg Pathol 15:166-8 (2007) DOI:10.1177/1066896906299123 PMID:21039783 AUTHORS Jinnin M, Ishihara T, Boye E, Olsen BR TITLE Recent progress in studies of infantile hemangioma. JOURNAL J Dermatol 37:939-55 (2010) DOI:10.1111/j.1346-8138.2010.00927.x PMID:20826985 AUTHORS Mendiratta V, Jabeen M TITLE Infantile hemangioma: an update. JOURNAL Indian J Dermatol Venereol Leprol 76:469-75 (2010) DOI:10.4103/0378-6323.69048 PMID:23266916 AUTHORS Chen TS, Eichenfield LF, Friedlander SF TITLE Infantile hemangiomas: an update on pathogenesis and therapy. JOURNAL Pediatrics 131:99-108 (2013) DOI:10.1542/peds.2012-1128 PMID:24906291 AUTHORS Laranjo S, Costa G, Parames F, Freitas I, Martins JD, Trigo C, Pinto FF TITLE The role of propranolol in the treatment of infantile hemangioma. JOURNAL Rev Port Cardiol 33:289-95 (2014) DOI:10.1016/j.repc.2013.10.018 |