Ehlers-Danlos syndrome; cutis elastica (EDS)

Introduction

A disorder characterized by hyperelasticity of the skin & hypermobile joints.

Classification

• type 1, classic, severe form of disease
• type 2, similar to type 1, but milder
• type 3, joint hypermobility more prominent than skin changes
• type 4, skin changes more prominent that joint hypermobility
• type 5, similar to tyepe 2, but X-linked inheritance
• type 6, scoliosis, ocular fragility, keratoconus
• type 7, difficult to distinguish from type 3
• type 8, periodontal changes
• type 9, biochemical classification
• type 10, biochemical classification
• type 11, biochemical classification
• Ehlers-Danlos syndrome progeroid variant
• Ehlers-Danlos syndrome musculocontractural type
• vascular Ehlers-Danlos syndrome

Epidemiology

• estimate of 1 in 5000 live births
• types 1, 2 & 3 most common

Pathology

• myxomatous change of the mitral valve is common
  • leaflet thickening
  • chordal elongation
  • spontaneous chordal rupture
  • annular enlargement with mitral regurgitation
  • increased risk of endocarditis
• arterial dilatation & rupture

Genetics

• associated with defects in type-1 collagen, type-3 collagen, type-5 collagen (classic)
• 90% of genes that cause hypermobile Ehlers-Danlos syndrome are unknown

Physical examination

• bent thumb can reach forearm
• little finger can extend to form 90-degree angle with back of hand
• can place hands flat on floor without bending knees
• can do splits

Clinical manifestations

• classic type
  • wide range of disease severity
  • many patients may not seek medical attention
  • musculoskeletal
    • joint laxity, hypermobility of joints
      • severity varies from mild to unreducible dislocations of large joints
      • patients often learn to reduce joint dislocations themselves
      • early osteoarthritis
    • scoliosis, pes planus
    • musculoskeletal pain
  • velvety skin
    • thin, hyperextensible skin, mild laxity, easily torn or scarred
    • delayed wound healing with atrophic scarring
    • easy bruising
  • cardiovascular
    • mitral valve prolapse
    • tricuspid valve prolapse
    • aortic root dilation (rare)
    • arterial rupture (rare)
  • hernia
• vascular Ehlers-Danlos syndrome
  • arterial fragility
  • thin, translucent skin
  • vascular aneurysms, arterial dissection, vessel rupture
  • arteriovenous fisutlas
  • intestinal perforation
  • uterine rupture (especially during pregnancy)

Diagnostic criteria

• see Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome

Diagnostic procedures

• echocardiogram/aortic ultrasound - annual screening for thoracic aortic aneurysm

Differential diagnosis

• Marfan syndrome

Management

• endovascular repair of ascending thoracic aortic aneurysm 4.5-5.0 cm
• surgical repair & tightening of joint ligaments with caution
  • ligaments frequently do not hold sutures
• endocarditis prophylaxis for mitral valve disorder
• preconception genetic counseling

More general terms

• genetic disease of connective tissue

More specific terms

• Ehlers-Danlos syndrome cardiac valvular form (EDSCV)
• Ehlers-Danlos syndrome musculocontractural type
• Ehlers-Danlos syndrome progeroid variant (familial joint instability syndrome)
• Ehlers-Danlos syndrome type I (severe form of classic Ehlers-Danlos)
• Ehlers-Danlos syndrome type II (mild classic form)
• Ehlers-Danlos syndrome type III (benign hypermobility form)
• Ehlers-Danlos syndrome type IV (arterial, ecchymotic or Sack type)
• Ehlers-Danlos syndrome type V, X-linked
• Ehlers-Danlos syndrome type VI
• Ehlers-Danlos syndrome type VII
• Ehlers-Danlos syndrome type VIII
• Ehlers-Danlos syndrome type X, with platelet dysfunction from fibronectin abnormality
• Ehlers-Danlos syndrome type XI (familial joint instability syndrome)

Patient information

Ehlers-Danlos syndrome patient information