EHLERS-DANLOS SYNDROME

  • Group of disorders which share common features.
    • Easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), and tissue weakness.
  • Inherited through genes passed from parents to offspring.
    • Categorized according to the form of genetic transmission into different types.
      • Many features differ between patients in any given type.
    • Fragile skin and loose joints is often a result of abnormal genes that produce abnormal proteins that give a inherent weakness of collagen.
  • Classical type (formerly types I & II)
    • Marked joint hypermobility, skin hyperextensibility (laxity), and fragility.
      • Smooth, velvety skin is fragile and tears or bruises easily with small injuries. ‘
      • Joint dislocations and scoliosis are common.
      • Joint instability can lead to sprains and strains.
    • Autosomal dominant genetic trait (directly passed on from one parent to child).
  • Hypermobility type (formerly type III)
    • Joint hypermobility – major manifestation
      • Any joint can be affected, and dislocations are frequent
    • Autosomal dominan
  • Vascular type (formerly type IV, the arterial form)
    • Spontaneous rupture of arteries and bowel – serious manifestation; can lead to death.
    • Clubfoot can be present.
    • Skin laxity in different degrees.
      • Veins can be very visible through the skin.
    • Autosomal dominant with autosomal recessive descriptions
  • Kyphoscoliosis type (formerly type VI)
    • Fragile globe of the eyes, significant skin and joint laxity, and scoliosis.
    • Autosomal recessive.
  • Arthrochalsia type (formerly type VIIB, arthrochalasis multiplex congenita)
    • Short with joint laxity and dislocations.
    • Skin involvement is variable.
    • Autosomal dominant and recessive.
    • Biopsy can be done for diagnosis.
  • Dermatosparaxis type (formerly type VIIC)
    • Severely fragile skin that is soft and doughy with sagging and folding.
    • Biopsy can be done for diagnosis.

 

 

 

  • Tenascin-X deficient type
    • Joint hypermobility, hyperelastic skin, and fragile tissue
      • Lack multiple shrinking (atrophied) scars seen in classic Ehlers-Danlos
    • Autosomal Recessive

 

  • Signs:
    • Easy bruising without significant trauma
    • Joint hypermobility
      • Can lead to dislocations

DIAGNOSIS

  • Physician may do/request:
    • History & Physical Exam
    • Skin biopsy

 

RECOMMENDED MEDICATIONS

  • Treated according to symptoms
  • Skin protection
    • Wounds must be tended with great care and infections treated and prevented.
  • Avoid joint injury
    • Bracing can be used occasionally
    • Strength exercises for more joint support
    • Contact sports and activities should be avoided

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