Ehlers‐Danlos syndrome – a historical review

  title={Ehlers‐Danlos syndrome – a historical review},
  author={Liakat Ali Parapia and Carolyn Jackson},
  journal={British Journal of Haematology},
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… 

- Danlos Syndrome

Issues relating to epidemiology, pathogenesis, clinical manifestations and treatment of various forms of Ehlers-Danlos syndrome are presented.

Anaesthesia recommendations for Ehlers-Danlos syndrome

  • Medicine
  • 2019
Ehlers-Danlos syndrome affects men and women of every race and ethnicity but is known to be more common among non-white populations and women.

Ehlers-Danlos Syndromes

Clinically, this group of disorders is collectively characterised by fragile or hyperelastic skin, hypermobility of the large joints, vascular lesions, easy bruising and excessive scarring following an injury.

A review of Ehlers-Danlos syndrome.

Thirteen EDS subtypes are recognized, with a wide degree of symptom overlap among subtypes and with other connective tissue disorders.

[Ehlers-Danlos syndromes].

  • D. Germain
  • Medicine
    Annales de dermatologie et de venereologie
  • 2017

Ehlers–Danlos syndrome: case report and an electron microscopy study

A case of a 50-year-old woman with a 30-year history of recurrent dislocations and atrophic scars is described, which performed diagnosis of EDS type III after a complete clinical and instrumental evaluation, comprising of histological and electron microscopic studies that highlighted collagen abnormalities.

Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?

This review focused on the study of two of the most common forms of EDS—classic and hypermobile—by trying to identify possible biomarkers that could be of great help to confirm patients’ diagnosis and their follow up.

Updates in Clinical and Genetics Aspects of Hypermobile Ehlers Danlos Syndrome

An update of the clinical and genetic aspects of hypermobile Ehlers-Danlos syndrome for clinicians and researchers is provided.

Aspects of Hypermobile Ehlers Danlos Syndrome

A recent international consortium proposed a revised Ehlers–Danlos syndrome classification, an update much needed since Villefranche nosology, in 1998 that brought significant attention to this often underappreciated condition.

Dysphonia--a rare early symptom of Ehlers--Danlos syndrome?




Ehlers‐Danlos syndrome and cutis laxa: an account of families in the Oxford area

It is shown that Ehlers‐Danlos syndrome is a dominant trait with variable manifestation and incomplete right bundle branch block is unusually frequent in Ehlers-Danlos.

Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome.

Two patients had severe scoliosis and fragility of ocular tissues leading to rupture of the globe or retinal detachment, and this combination of symptoms was tentatively classified as Ehlers-Danlos syndrome, Type VI.

Ehlers‐Danlos syndromes: Revised nosology, Villefranche, 1997

This work proposes a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type based on major and minor diagnostic criteria defined for each type and complemented whenever possible with laboratory findings.

Bleeding and bruising in patients with Ehlers–Danlos syndrome and other collagen vascular disorders

Haematological studies including evaluation of clotting factors, platelet aggregation and bleeding time are usually normal in patients with EDS, except for the Hess test (Rumple–Leede test), which may be abnormal, indicating capillary fragility.

Clinical and Genetic Features of Vascular Ehlers-Danlos Syndrome

Vascular Ehlers Danlos syndrome (EDS) is a rare autosomal dominant inherited disorder of connective tissue resulting from mutation of the COL3A1 gene encoding type III collagen. Affected individuals

Ehlers-Danlos syndrome; a clinical and genetic study.

The PAUCITY of the literature on the Ehlers-Danlos syndrome in all fields except pediatrics and dermatology would make one believe that the condition has been arrogated by members of these two

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

This work proposes a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type based on major and minor diagnostic criteria defined for each type and complemented whenever possible with laboratory findings.

The Ehlers‐Danlos Syndrome

There is an association between a particular allele size class, the long form, at the dinudeotide repeat within intron 16 and the duplication mutation in PLOD, and a variation in the sequence of DNA region surrounding the duplication.


Margarot 1 defined the Danlos syndrome as a tetrad of symptoms consisting of: (1) hyperelasticity of the skin; (2) hyperlaxity of the joints; (3) fragility of the skin, involving especially the


The terminology needs revision, so that the importance of one of the symptoms, hyperlaxity or hyperflexibility of the joints, is considered.