KEGG   DISEASE: 静脈奇形
エントリ  
H00531                                                             
名称    
静脈奇形
  下位グループ
孤発性静脈奇形
皮膚粘膜の静脈奇形
巨大静脈奇形
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  主に1つの体系に影響する構造的発達異常
   循環器系の構造的発達異常
    LA90  末梢血管系の構造的発達異常
     H00531  静脈奇形
指定難病 [jp08407.html]
 H00531
病因遺伝子 
(sporadic, cutaneomucosal) TIE2 [HSA:7010] [KO:K05121]
(glomuvenous) GLMN [HSA:11146] [KO:K23345]
治療薬   
シロリムス [DR:D00753]
リンク   
ICD-11: LA90.2
MeSH: C563977 C536827
OMIM: 600195 138000
文献    
  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
文献    
  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
文献    
  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
文献    
  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
文献    
  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
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