埃勒斯-當洛二氏症候群
(重定向自埃勒斯-当洛综合征)
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埃勒斯-當洛斯症候群 Ehlers–Danlos syndromes | |
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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] |
併發症 | 主动脉夹层 (aortic dissection), 脫臼 (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 | 膠原疾病[*]、疾病 |
病因 | 遗传[1] |
診斷方法 | 基因檢測 (genetic testing), 皮肤活检 (skin biopsy)[3] |
鑑別診斷 | 馬凡氏症候群(Marfan syndrome), 皮肤松弛症 (cutis laxa syndrome),家族样关节活动过度综合征 (familial joint hypermobility syndrome)[3] |
治療 | 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 | |
醫學專科 | 醫學遺傳學 (medical genetic) |
ICD-11 | LD28.1 |
ICD-9-CM | 756.83 |
DiseasesDB | 4131 |
MedlinePlus | 001468 |
eMedicine | 1114004、943567 |
Orphanet | 98249 |
埃勒斯-當洛斯症候群(英語:Ehlers-Danlos Syndrome,縮寫為 EDS),又稱皮膚彈力過度症(英語:Cutis hyperelastica)、鬆皮症、先天性結締組織異常症候群,是一種遺傳疾病,因膠原蛋白(第一型或第三型)生成的缺陷,造成結締組織異常而產生。特徵為身上部份肌肉與關節組織逐漸變得異常柔軟、有彈性,之後漸漸鬆弛。
本症首先由丹麥醫生愛德華·埃勒斯與法國醫師亨利-亞歷山大·當洛斯在二十世紀初時所確認,因此而命名。
症狀分類
1997年之前的旧分类法(Berlin分型)将埃勒斯-當洛二氏症候群分为十種類型[5](I型到X型)。1997年,研究人員在此基础上提出了一种较为簡單的分類方式[6](Villefranche分型),將它的主要類型分成六種,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综合征协会新修订的EDS分类则将其分为13种亚型[7],包括:
- 经典型EDS(Classical EDS)
- 经典样EDS(Classical-like EDS)
- 心脏-瓣膜型EDS(Cardiac-valvular EDS)
- 血管型EDS(Vascular EDS)
- 关节过度活动型EDS(Hypermobile EDS)
- 关节松弛型EDS(Arthrochalasia EDS)
- 皮肤脆裂型EDS(Dermatosparaxis EDS)
- 脊柱侧后凸型EDS(Kyphoscoliotic EDS)
- 脆性角膜综合征(Brittle Cornea syndrome)
- 脊椎变异型EDS(Spondylodysplastic EDS)
- 肌肉挛缩型EDS(Musculocontractural EDS)
- 肌病型EDS(Myopathic EDS)
- 牙周病型EDS(Periodontal EDS)
著名患者
註釋
- ^ 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).
- ^ 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).
- ^ 3.0 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.
- ^ 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).
- ^ 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.
- ^ 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.
- ^ 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).
外部連結
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维基共享资源上的相关多媒体资源:埃勒斯-當洛二氏症候群
- 开放目录项目中的“埃勒斯-當洛二氏症候群”
- Ehlers–Danlos Syndrome, Classic Type. Includes: Ehlers–Danlos Syndrome Type I, Ehlers–Danlos Syndrome Type II (页面存档备份,存于互联网档案馆)
- University of Washington Medicine, Orthopaedics and Sports Medicine Multi-page explanation of EDS, including symptoms, genetics, diagnosis, and treatment
- National Institute of Health on Hypermobility EDS (页面存档备份,存于互联网档案馆)
- GeneReviews/NCBI/NIH/UW entry on Ehlers–Danlos Syndrome Type IV (页面存档备份,存于互联网档案馆)
- eds at NIH/UW GeneTests
- Ehlers–Danlos National Foundation
- Hypermobile – A blog about Ehlers Danlos Syndrome (页面存档备份,存于互联网档案馆) The lack of clinical distinction between the hypermobility type of Ehlers–Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome)
- Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach (页面存档备份,存于互联网档案馆)
- Anesthesia for EDS patients - Guidelines at orphananesthesia.eu
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