= group of autosomal dominant diseases of connective tissue characterized by abnormal collagen synthesis → excessive tissue fragility

Types: 10 types have been described that differ clinically, biochemically, and genetically

Age: present at birth; predominantly in males

• hyperelasticity of skin
• fragile brittle skin with gaping wounds and poor healing
• molluscoid pseudotumors over pressure points
• hyperextensibility of joints; joint contractures with advanced age
• bleeding tendency ← fragility of blood vessels
• blue sclera, microcornea, myopia, keratoconus, ectopia lentis

• Soft tissues
  • multiple ovoid calcifications (2–10 mm) in subcutis / in fatty cysts (“spheroids”), most frequently in periarticular areas of legs
  • ectopic bone formation
• Skeleton
  • hemarthrosis (particularly in knee)
  • malalignment / subluxation / dislocation of joints on stress radiographs
  • recurrent dislocations: hip, patella, shoulder, radius, clavicle
  • precocious osteoarthrosis (predominantly in knees)
  • ulnar synostosis
  • kyphoscoliosis
  • spondylolisthesis
  • spina bifida occulta
• Chest
  • diaphragmatic hernia
  • panacinar emphysema + bulla formation
  • tracheobronchomegaly + bronchiectasis
• Arteries (= type IV of Ehlers-Danlos syndrome)
  • aneurysm of great vessels, aortic dissection, aortic rupture, tortuosity of arch, ectasia of pulmonary arteries (in 60% by age 40)
  • AORTOGRAPHY CONTRAINDICATED!
    (Cx following arteriography: aortic rupture, hematomas)
• GI tract
  • ectasia of gastrointestinal tract