Fact-sheet: Ehlers-Danlos syndrome


Updated on 10/17/2023 at 10:23 AM

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Definition

Classic Ehlers-Danlos syndrome is an autosomal dominant hereditary connective tissue disorder characterized by:

  • skin hyperelasticity and fragility
  • impaired and delayed wound healing (atrophic "paper-like" scars)
  • joint hypermobility

Clinical features

Major criteria:

  • skin hyperelasticity
  • impaired and delayed wound healing (atrophic "paper-like" scars)
  • joint hypermobility

Minor criteria:

  • first-degree family history meeting the clinical criteria
  • Skin fragility
  • Bruising
  • Soft/"doughy" skin texture
  • Molluscoid pseudotumors
  • Subcutaneous spheroids
  • Inguinal/umbilical hernia
  • Epicanthal folds
  • Complications of joint hypermobility

Other:

  • Mitral valve prolapse
  • Pediatric anal prolapse
  • Rectal or uterine prolapse
  • Blepharochalasis
  • Dissection or rupture of medium-caliber arteries
  • Pregnancy-related risks (prematurity, breech presentation) and delivery-related risks (extended episiotomy, perineal tearing, prolapse)

Laboratory findings

Diagnosis by genetic testing

Radiography

Osteoarticular radiographs

  • Hemarthroses
  • Recurrent subluxations and dislocations (especially temporomandibular)
  • Kyphoscoliosis
  • Spondylolisthesis
  • Arachnodactyly
  • Multiple subcutaneous calcifications
  • Ectopic ossification

Chest radiograph

  • Diaphragmatic hernia
  • Emphysema

CT

CT angiography: Assessment of dissections, aneurysms, arterial dolichoectasia

MRI

Pelvic MRI: Rectocele, uterine prolapse

Vascular intervention

Aortography contraindicated because of the risk of dissection

Classification

13 types including very rare forms

  • Types I & II: Classic Ehlers-Danlos syndrome
  • Type III: Hypermobile Ehlers-Danlos syndrome
  • Type IV: Vascular Ehlers-Danlos syndrome
  • Type VI: Kyphoscoliotic Ehlers-Danlos syndrome
  • Type VII: VIIa-b Arthrochalasia; VIIc dermatosparaxis

Differential diagnosis

  • Other types of Ehlers-Danlos syndrome
  • Marfan syndrome
  • Loeys-Dietz syndromes
  • Cutis Laxa
  • Other hereditary connective tissue disorders