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

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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