Ehlers–Danlos syndrome (EDS)

• EDS
• Cutis hyperelastica

• 756.831 Ehlers Danlos syndrome

• Q79.6 Ehlers-Danlos syndrome

• 5F: Impaired Peripheral Nerve Integrity and Muscle Performance Associated With Peripheral Nerve Injury1

Description

• Group of inherited disorders involving collagen
• Major manifestations2
  • Classical: most common form
    • Autosomal dominant heritability
    • Hyperextensible skin with atrophic scars
    • Easy bruising
    • Friability of tissues, which can result in
      • Hiatal hernia
      • Anal prolapse
      • Bleeding and poor wound-healing,
    • Molluscoid pseudo-tumors (calcified hematomas)
  • Hypermobility of joints: least severe form
    • Autosomal dominant heritability
    • Affects large and small joints
    • Recurrent joint subluxations and dislocations
      • Shoulder
      • Patella
      • Temporomandibular
  • Vascular: most severe form
    • Autosomal dominant heritability
    • Can lead to organ or arterial rupture
    • Thin, translucent skin
    • Facial characteristics
      • Large eyes
      • Thin nose
      • Lobeless ears
      • Short stature
      • Thin scalp hair
  • Kyphoscoliosis
    • Autosomal recessive heritability
    • Scoliosis at birth; progressive throughout life
    • Generalized joint laxity
    • Severe muscle hypotonia at birth
    • Other findings
      • Marfan-like features
      • Microcornea
      • Radiologically considerable osteopenia
  • Arthrochalasia
    • Autosomal dominant heritability
    • Congenital bilateral hip dislocation
    • Other manifestations may include
      • Skin hyperextensibility with easy bruising
      • Tissue fragility, including atrophic scars
      • Muscle hypotonia
      • Kyphoscoliosis
      • Radiologically mild osteopenia
  • Dermatosparaxis
    • Autosomal recessive heritability
    • Severe skin fragility
    • Sagging, redundant skin
    • Substantial bruising
    • Wound healing not impaired
    • Scars not atrophic

Essentials of Diagnosis2

• Characterized by joint hypermobility, skin extensibility, and tissue fragility
• Six major types (see “Description”) classified according to symptom manifestations and family history
  • Clinical evaluation and family history to identify hypermobile type
    • Joint hypermobility confirmed by a score of five or higher on the nine-point Beighton Scale
  • Skin biopsy to identify vascular, arthrochalasia, dermatosparaxis
  • Urine test to identify kyphoscoliosis

General Considerations

• Hypermobile type is least severe, leads primarily to musculoskeletal complications

Demographics

• Females seek more medical care related to pain and joint complications than males

Signs and Symptoms

• Most often joint- and skin-related3
  • Joints
    • Joint hypermobility: loose, unstable joints; prone to frequent dislocation or subluxation
    • Joint pain
    • Early onset of osteoarthritis
  • Skin
    • Soft, velvety skin
    • Variable skin hyperextensibility
    • Fragile skin that tears or bruises easily
      • Manifests as spontaneous ecchymoses
      • Characteristic brownish discoloration
      • Tendency toward prolonged bleeding despite normal coagulation status
    • Severe scarring
      • Scars found mostly on pressure points (knee, elbow, forehead, chin)
    • Slow and poor wound-healing
    • Easy bruising may be the primary presenting symptom in early childhood
    • Development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas)
• Chronic pain
  • Physically and psychosocially disabling
  • Variable age of onset, location, duration, quality, severity, response to therapy
  • Affected individuals may also be diagnosed with
    • Chronic fatigue syndrome
    • Fibromyalgia
    • Hypochondriasis
  • Other pain syndromes
    • Myofascial pain
    • Neuropathic pain
    • Headaches/migraines
• Hematologic
  • Easy bruising
  • Mildly prolonged bleeding
• Gastrointestinal
  • Gastroesophageal reflux
  • Gastritis
  • Delayed gastric emptying
  • Irritable bowel syndrome
• Cardiovascular
  • Autonomic dysfunction
    • Atypical chest pain
    • Palpitations
    • Orthostatic intolerance
  • Aortic root dilatation occurs in one-quarter to ...