| H00531 | |
| H番号 | H00531 |
| 名称 | 静脈奇形 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (sporadic, cutaneomucosal) TIE2 [HSA:7010] [KO:K05121] (glomuvenous) GLMN [HSA:11146] [KO:K23345] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA90.2 ICD-10: Q27.3 MeSH: C563977 C536827 OMIM: 600195 138000 |
| 文献 | PMID:26483982 著者 Amato MV, Patel NA, Hu S, Pantelides H タイトル Sporadic Multifocal Venous Malformations of the Head and Neck. 雑誌 Case Rep Otolaryngol 2015:508149 (2015) DOI:10.1155/2015/508149 PMID:24008546 著者 Leung M, Leung L, Fung D, Poon WL, Liu C, Chung K, Tang P, Tse S, Fan TW, Chao N, Liu K タイトル Management of the low-flow head and neck vascular malformations in children: the sclerotherapy protocol. 雑誌 Eur J Pediatr Surg 24:97-101 (2014) DOI:10.1055/s-0033-1354585 PMID:17670762 著者 Brouillard P, Vikkula M タイトル Genetic causes of vascular malformations. 雑誌 Hum Mol Genet 16 Spec No. 2:R140-9 (2007) DOI:10.1093/hmg/ddm211 PMID:16379592 著者 Wang QK タイトル Update on the molecular genetics of vascular anomalies. 雑誌 Lymphat Res Biol 3:226-33 (2005) DOI:10.1089/lrb.2005.3.226 PMID:19079259 著者 Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M タイトル Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. 雑誌 Nat Genet 41:118-24 (2009) DOI:10.1038/ng.272 |