Ehlers-Danlos syndrome

Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease).

There is a recognised male predominance.

Clinically manifests by skin hyperelasticity and fragility, joint hypermobility and blood vessel fragility with bleeding diathesis 1.

There is poor tissue healing with delayed healing with tissue paper like scarring 1.

There are at least ten subtypes with variable inheritance patterns. The majority are autosomal dominant:

  • types I, II and III are autosomal dominant with an unknown biochemical origin.
  • type IV (also called vascular Ehlers-Danlos syndrome 4) is autosomal dominant and involves the arteries, GI tract, uterus and skin; COL3A1 mutation result in type III collagen production
  • type VI is recessively inherited. It results from a mutation in the gene that encodes lysyl hydroxylase
  • type VII is autosomal dominant. It results from COL1A1 and COL1A2 mutation that result in defective conversion of procollagen to collagen
  • types V, VIII, IX and X are very rare and their features have not been fully described 1

These are best discussed according to system.

  • multiple ovoid calcifications (<1 cm) in the subcutaneous tissue
  • ectopic ossification 2
  • ectasiae of the gastrointestinal tract
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Article information

rID: 12355
Section: Syndromes
Synonyms or Alternate Spellings:
  • Ehlers-Danlos disease
  • Ehlers Danlos disease
  • Ehlers Danlos syndrome

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