埃勒斯-当洛二氏症候群

埃勒斯-当洛斯症候群(英语:Ehlers-Danlos Syndrome,缩写为 EDS),又称皮肤弹力过度症(英语:Cutis hyperelastica)、松皮症先天性结缔组织异常症候群,是一种遗传疾病,因胶原蛋白(第一型或第三型)生成的缺陷,造成结缔组织异常而产生。特征为身上部分肌肉与关节组织逐渐变得异常柔软、有弹性,之后渐渐松弛。

埃勒斯-当洛斯症候群
Ehlers–Danlos syndromes
松皮症患者 (individual with EDS displaying skin hyperelasticity)
症状过于灵活的关节 (overly flexible joints), 有弹性的皮肤(stretchy skin), 不正常疤痕的形成 (abnormal scar formation)[1]
并发症主动脉夹层 (aortic dissection), 脱臼 (joint dislocations), 骨关节炎 (osteoarthritis)[1]
起病年龄出生 (birth) or 儿童早期 (early childhood)[2]
病程长期(long term)[3]
类型胶原疾病[*]疾病
病因遗传[1]
诊断方法基因检测 (genetic testing), 皮肤活检 (skin biopsy)[3]
鉴别诊断马凡氏症候群(Marfan syndrome), 皮肤松弛症英语Cutis laxa (cutis laxa syndrome),家族样关节活动过度综合征英语Familial joint hypermobility syndrome (familial joint hypermobility syndrome)[3]
治疗支持 (supportive)[4]
预后取决于类型 (depends on the type)[3]
患病率1/5,000 (1 in 5,000)[1]
分类和外部资源
医学专科医学遗传学 (medical genetic)
ICD-11LD28.1
ICD-9-CM756.83
DiseasesDB4131
MedlinePlus001468
eMedicine1114004、​943567
Orphanet98249
[编辑此条目的维基数据]

本症首先由丹麦医生爱德华·埃勒斯与法国医师亨利-亚历山大·当洛斯在二十世纪初时所确认,因此而命名。

症状分类

1997年之前的旧分类法(Berlin分型)将埃勒斯-当洛二氏症候群分为十种类型[5](I型到X型)。1997年,研究人员在此基础上提出了一种较为简单的分类方式[6](Villefranche分型),将它的主要类型分成六种,即:关节过度活动型(Hypermobility type,EDS III型)、经典型(Classical type,EDS I/II型)、血管型(Vascular type,EDS IV型)、脊柱侧后凸型(Kyphoscoliosis type,EDS VI型)、关节松弛型(Arthrochalasia type,EDS VIIA/VIIB型)和皮肤脆裂型(Dermatosparaxis type,EDS VIIC型)。

2017年国际Ehlers-Danlos综合征协会英语Ehlers-Danlos Society新修订的EDS分类则将其分为13种亚型[7],包括:

  1. 经典型EDS(Classical EDS)
  2. 经典样EDS(Classical-like EDS)
  3. 心脏-瓣膜型EDS(Cardiac-valvular EDS)
  4. 血管型EDS(Vascular EDS)
  5. 关节过度活动型EDS(Hypermobile EDS)
  6. 关节松弛型EDS(Arthrochalasia EDS)
  7. 皮肤脆裂型EDS(Dermatosparaxis EDS)
  8. 脊柱侧后凸型EDS(Kyphoscoliotic EDS)
  9. 脆性角膜综合征(Brittle Cornea syndrome)
  10. 脊椎变异型EDS(Spondylodysplastic EDS)
  11. 肌肉挛缩型EDS(Musculocontractural EDS)
  12. 肌病型EDS(Myopathic EDS)
  13. 牙周病型EDS(Periodontal EDS)

著名患者

注释

  1. ^ 1.0 1.1 1.2 1.3 Ehlers–Danlos syndrome. Genetics Home Reference. [2016-05-08]. (原始内容存档于2016-05-08). 
  2. ^ Anderson, Bryan E. The Netter Collection of Medical Illustrations - Integumentary System E-Book 2. Elsevier Health Sciences. 2012: 235 [2018-02-04]. ISBN 1455726648. (原始内容存档于2020-07-18) (英语). 
  3. ^ 3.0 3.1 3.2 3.3 Lawrence, Elizabeth J. (2005). "The clinical presentation of Ehlers–Danlos syndrome". Advances in Neonatal Care. 5 (6): 301–14. doi:10.1016/j.adnc.2005.09.006. PMID 16338669.
  4. ^ Ferri, Fred F. Ferri's Netter Patient Advisor. Elsevier Health Sciences. 2016: 939 [2018-02-04]. ISBN 9780323393249. (原始内容存档于2020-08-05) (英语). 
  5. ^ P. Beighton; A. de Paepe; D. Danks; G. Finidori; T. Gedde-Dahl; R. Goodman; J. G. Hall; D. W. Hollister; W. Horton; V. A. McKusick; J. M. Opitz; F. M. Pope; R. E. Pyeritz; D. L. Rimoin; D. Sillence; J. W. Spranger; E. Thompson; P. Tsipouras; D. Viljoen; I. Winship; I. Young; James F. Reynolds. International nosology of heritable disorders of connective tissue, Berlin, 1986. American Journal of Medical Genetics. Mar 1988, 29 (3): 581–594. doi:10.1002/ajmg.1320290316. 
  6. ^ Peter Beighton; Anne De Paepe; Beat Steinmann; Petros Tsipouras; Richard J. Wenstrup. Ehlers-Danlos Syndromes: Revised Nosology, Villefranche, 1997. American Journal of Medical Genetics. May 1998, 77 (1): 31–37. PMID 9557891. doi:10.1002/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o. 
  7. ^ Fransiska Malfait; Clair Francomano; Peter Byers; John Belmont; Britta Berglund; James Black; Lara Bloom; Jessica M. Bowen; Angela F. Brady; Nigel P. Burrows; Marco Castori; Helen Cohen; Marina Colombi; Serwet Demirdas; Julie De Backer; Anne De Paepe; Sylvie Fournel-Gigleux; Michael Frank; Neeti Ghali; Cecilia Giunta; Rodney Grahame; Alan Hakim; Xavier Jeunemaitre; Diana Johnson; Birgit Juul-Kristensen; Ines Kapferer-Seebacher; Hanadi Kazkaz; Tomoki Kosho; Mark E. Lavallee; Howard Levy; Roberto Mendoza-Londono; Melanie Pepin; F. Michael Pope; Eyal Reinstein; Leema Robert; Marianne Rohrbach; Lynn Sanders; Glenda J. Sobey; Tim Van Damme; Anthony Vandersteen; Caroline van Mourik; Nicol Voermans; Nigel Wheeldon; Johannes Zschocke; Brad Tinkle. The 2017 International Classification of the Ehlers–Danlos Syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017 Mar, 175 (1): 8–26 [2022-11-01]. PMID 28306229. doi:10.1002/ajmg.c.31552. (原始内容存档于2019-05-28). 

外部链接

Template:Collagen disease英语Template:Collagen disease Template:Posttranslational modification disorders英语Template:Posttranslational modification disorders Template:Congenital malformations and deformations of integument英语Template:Congenital malformations and deformations of integument