Ehlers-Danlos syndrome - a historical review

被引:92
作者
Parapia, Liakat A.
Jackson, Carolyn
机构
[1] Bradford Teaching Hosp NHS Fdn Trust, Dept Haematol, Bradford, W Yorkshire, England
[2] Univ Bradford, Bradford BD7 1DP, W Yorkshire, England
关键词
Ehlers-Danlos; history; haemostasis; haemorrhage;
D O I
10.1111/j.1365-2141.2008.06994.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Ehlers-Danlos syndrome is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. It is one of the oldest known causes of bruising and bleeding and was first described by Hipprocrates in 400 BC. Edvard Ehlers, in 1901, recognized the condition as a distinct entity. In 1908, Henri-Alexandre Danlos suggested that skin extensibility and fragility were the cardinal features of the syndrome. In 1998, Beighton published the classification of Ehlers-Danlos syndrome according to the Villefranche nosology. From the 1960s the genetic make up was identified. Management of bleeding problems associated with Ehlers-Danlos has been slow to progress.
引用
收藏
页码:32 / 35
页数:4
相关论文
共 34 条
[1]  
Beighton P, 1998, AM J MED GENET, V77, P31, DOI 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO
[2]  
2-O
[3]  
BEIGHTON P, 1993, MCKUSICKS HERITABLE, P189
[4]  
Beighton P, 1970, EHLERS DANLOS SYNDRO, P1
[5]   The rare coagulation disorders - review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation [J].
Bolton-Maggs, PHB ;
Perry, DJ ;
Chalmers, EA ;
Parapia, LA ;
Wilde, JT ;
Williams, MD ;
Collins, PW ;
Kitchen, S ;
Dolan, G ;
Mumford, AD .
HAEMOPHILIA, 2004, 10 (05) :593-628
[6]  
CECCOLINI E, 2005, EHLERSDANLOS SYNDROM
[7]   The Human Collagen Mutation Database 1998 [J].
Dalgleish, R .
NUCLEIC ACIDS RESEARCH, 1998, 26 (01) :253-255
[8]   Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders [J].
De Paepe, A ;
Malfait, F .
BRITISH JOURNAL OF HAEMATOLOGY, 2004, 127 (05) :491-500
[9]  
ENERSON OD, 2004, EHLERSDANLOS SYNDROM
[10]   Clinical and genetic features of vascular Ehlers-Danlos syndrome [J].
Germain, DP .
ANNALS OF VASCULAR SURGERY, 2002, 16 (03) :391-397