Etiology:

Mutations lead to:

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

Clinical:

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