Ehlers-Danlos syndrome


Mutations lead to:

  • Defect in collagen and procollagen structures
  • Defective collagen synthetic enzymes


Hyper elasticity of skin and joints, fragile blood vessels

1. Systemic:

  • Bleeding tendencies
  • Poor wound healing
  • Rupture of vital organs

2. Skin:

  • Excess skin on palm and toes
  • Subcutaneous fatty cysts
  • Molluscoid pseudotumors

3. Oral:

  • Enamel hypoplasia
  • Severe PDL disease
  • Dislocation of TMJ

4. Eyes:

  • Ectopic lentis (displaced lens)

NB: Patients who cannot metabolize copper suffer from this disease

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