斑痣性错构瘤病

斑痣性错构瘤病Phakomatoses)又称为神经皮肤综合征neurocutaneous syndromes)是一类涉及到皮肤眼睛中枢神经系统先天性遗传病[1]

斑痣性错构瘤病
Phakomatosis
类型疾病
分类和外部资源
醫學專科醫學遺傳學
ICD-11LD2D
ICD-10Q85
ICD-9-CM759.5-759.6
DiseasesDB31496
MeSHD020752

发生斑痣性错构瘤病的组织在胚胎时期都起源于外胚层。但在某些情况下,如希佩尔-林道综合征,外胚层的作用很小[2]

斑痣性错构瘤病的英文名字Phakomatoses来自希腊φακός(phakos、“斑痣”的意思)和表示病变状态后缀词-osis组成,在1920年由荷兰眼科医生扬·范德霍夫(Jan van der Hoeve)首先提出[3]。那时候,研究者并不清楚这类疾病拥有不同的遗传学基础。

斑痣性错构瘤病的类型

斑痣性错构瘤病的定义不一致,目前也没有对斑痣性错构瘤病所包括的类型达成共识[4]

斑痣性错构瘤病可以包括:

参考资料

  1. Arthur Rook; Tony Burns (FRCP.). . Wiley-Blackwell. 2004: 5– [27 October 2010]. ISBN 9780632064298. (原始内容存档于2014-07-04).
  2. Template:Medcyclopaedia
  3. Enersen, Ole Daniel. . Who Named It?. [2007-07-13]. (原始内容存档于2018-03-22).
  4. Myron Yanoff; Jay S. Duker. . Elsevier Health Sciences. 2009: 937– [27 October 2010]. ISBN 9780323043328. (原始内容存档于2014-07-07).

延伸阅读

^ Arthur Rook; Tony Burns (FRCP.) (2004). Rook's textbook of dermatology. Wiley-Blackwell. pp. 5–. ISBN 9780632064298. http://books.google.com/books?id=t2tERO4tAg8C&pg=SA5-PA69 页面存档备份,存于. Retrieved 27 October 2010. ^ vi_1/p/PHAKOMATOSIS article at GE's Medcyclopaedia ^ Enersen, Ole Daniel. "Jan van der Hoeve". Who Named It?. http://www.whonamedit.com/doctor.cfm/792.html 页面存档备份,存于. Retrieved 2007-07-13. ^ Myron Yanoff; Jay S. Duker (2009). Ophthalmology. Elsevier Health Sciences. pp. 937–. ISBN 9780323043328. http://books.google.com/books?id=u43MTFr7-m8C&pg=PA937 页面存档备份,存于. Retrieved 27 October 2010. ^ Sandra Bellezza, MD: Neurological Manifestations of Phakomatos

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