| H00531 | |
| H number | H00531 |
| Name | Venous malformations |
| Description | Venous malformations are vascular anomalies that present with congenital blue-colored birthmarks resulted from dilated veins. Venous malformations are low-flow vascular malformations. Majority of them occur in the head and neck region. Birthmarks in cutaneomucosal venous malformation appear mainly on skin and mucosa, whereas plaques in glomuvenous malformation are located on the extremities, usually nodular and associated with abnormal smooth muscle-like 'glomus cells'. Most cases are unifocal, with extensive venous malformations accounting for only one percent of cases and more commonly manifesting as rare, inherited forms. Venous malformations will grow with age, infiltrating normal structures. They can give rise to functional disabilities, including obstruction to airway and swallowing difficulties. Also, they can cause visual or auditory disturbance and delayed speech development. In addition, bleeding, pain, infection, skeletal deformity, and cosmetic disfigurement may occur. Active treatment of venous malformations is indicated especially in head and neck region. Surgery can cause damage to normal surrounding structures, resulting in significant disfigurement and loss of function. Complete excision is often impossible for infiltrative lesions. Sclerotherapy has gained popularity recently and become the first-line treatment for venous malformations in head and neck region. |
| Category | Congenital malformation |
| Network | - |
| Gene | (sporadic, cutaneomucosal) TIE2 [HSA:7010] [KO:K05121] (glomuvenous) GLMN [HSA:11146] [KO:K23345] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA90.2 ICD-10: Q27.3 MeSH: C563977 C536827 OMIM: 600195 138000 |
| Reference | PMID:26483982 AUTHORS Amato MV, Patel NA, Hu S, Pantelides H TITLE Sporadic Multifocal Venous Malformations of the Head and Neck. JOURNAL Case Rep Otolaryngol 2015:508149 (2015) DOI:10.1155/2015/508149 PMID:24008546 AUTHORS Leung M, Leung L, Fung D, Poon WL, Liu C, Chung K, Tang P, Tse S, Fan TW, Chao N, Liu K TITLE Management of the low-flow head and neck vascular malformations in children: the sclerotherapy protocol. JOURNAL Eur J Pediatr Surg 24:97-101 (2014) DOI:10.1055/s-0033-1354585 PMID:17670762 AUTHORS Brouillard P, Vikkula M TITLE Genetic causes of vascular malformations. JOURNAL Hum Mol Genet 16 Spec No. 2:R140-9 (2007) DOI:10.1093/hmg/ddm211 PMID:16379592 AUTHORS Wang QK TITLE Update on the molecular genetics of vascular anomalies. JOURNAL Lymphat Res Biol 3:226-33 (2005) DOI:10.1089/lrb.2005.3.226 PMID:19079259 AUTHORS Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M TITLE Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. JOURNAL Nat Genet 41:118-24 (2009) DOI:10.1038/ng.272 |