Peds

Ehlers-Danlos Syndrome

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Ehlers-Danlos Syndrome, Ehlers Danlos Syndrome, Cutis hyperplastica

  • Pathophysiology
  1. Conective tissue disorder
  • Types
  1. Hypermobile Ehlers-Danlos Syndrome (Autosomal Dominant, 80-90% of EDS cases)
    1. Only Ehlers-Danlos Syndrome type without an identified genetic disorder
    2. Joint Hypermobility with Joint Pain or recurrent dislocations
    3. Atrophic Scarring is mild (and no hemosiderotic scars)
    4. Skin is not as fragile
    5. No genetic associations identified
    6. Obtain screening Echocardiogram
    7. Positive Beighton Score
  2. Classic Ehlers-Danlos Syndrome (COL5A1, COL5A2, COL1A1; Autosomal Dominant)
    1. Skin Hyperextensibility
    2. Atrophic Scarring
    3. Generalized joint Hypermobility
    4. Positive Beighton Score
  3. Classic-Like Ehlers-Danlos Syndrome (TNXB, Autosomal Recessive)
    1. Atrophic Scarring absent
    2. Skin hyperextensibility
    3. Easy Bruising
    4. Positive Beighton Score
  4. Cardiac-Valvular Ehlers-Danlos Syndrome (COL1A2, Autosomal Recessive)
    1. Severe progressive cardiac valvular disorders
    2. Variable Beighton Score
  5. Vascular Ehlers-Danlos Syndrome (COL3A1, rarely COL1A1, Autosomal Dominant)
    1. Early arterial rupture
    2. Uterine Rupture
    3. Sigmoid colon perforation
    4. Carotid-Cavernous Sinus Fistula
  6. Arthrochalasia Ehlers-Danlos Syndrome (COL1A1, COL1A2; Autosomal Dominant)
    1. Bilateral Congenital Hip Dislocation
    2. Skin hyperextensibility
    3. Positive Beighton Score
  7. Dermatosparaxis Ehlers-Danlos Syndrome (ADAMTS2, Autosomal Recessive)
    1. Significant skin fragility
    2. Redundant lax skin
    3. Craniofacial anomalies
    4. Postnatal growth restriction
    5. Variable Beighton Score
  8. Kyphoscoliotic Ehlers-Danlos Syndrome (PLOD1, FKB14, Autosomal Recessive)
    1. Congenital muscle hypotonia
    2. Kyphoscoliosis
    3. Dislocations and Subluxations
    4. Congenital Hearing Deficit
    5. Positive Beighton Score
  9. Brittle Cornea Syndrome (ZNF469, PRDM5, Autosomal Recessive)
    1. Thin Cornea (risk of rupture)
    2. Keratoconus
    3. Blue Sclerae
    4. Keratoglobus
    5. Variable Beighton Score
  10. Spondylodysplastic Ehlers-Danlos Syndrome (B4GALT7, B3GALT6, SLC39A13, Autosomal Recessive)
    1. Short Stature
    2. Muscle hypotonia
    3. Limb bowing
    4. Variable Beighton Score
  11. Musculocontractural Ehlers-Danlos Syndrome (9CHST14, DSE, Autosomal Recessive)
    1. Congenital multiple contractures
    2. Craniofacial abnormality
    3. Skin involvement
    4. Variable Beighton Score
  12. Myopathic Ehlers-Danlos Syndrome (COL12A1, Autosomal Recessive or dominant)
    1. Congenital muscle hypotonia or atrophy of distal joints (improves with age)
    2. Proximal muscle contractures
  13. Periodontal Ehlers-Danlos Syndrome (C1R, C1S, Autosomal Dominant)
    1. Periodontitis and detached Gingiva
    2. Pretibial Plaques
    3. Variable Beighton Score
  • Differential Diagnosis
  1. See Hypermobility Syndrome
  2. See Ehlers-Danlos Syndrome (EDS) types as above
  • Imaging
  1. Echocardiogram
    1. Indicated for aortic dilation or Mitral Valve Prolapse
    2. Repeat yearly, if anomaly present
  • Management
  1. General
    1. Avoid Contact Sports
    2. Avoid joint injury
    3. Regular Exercise is encouraged (low impact, low resistance)
    4. Maintain a healthy weight (adequate nutrition, but avoid excessive weight gain)
  2. Multidisciplinary Consultation
    1. Consult physical therapy
      1. Strengthening Exercises
      2. Proprioception Exercises
    2. Consider occupational therapy
      1. Upper extremity strengthening (esp. Hand Muscles)
      2. Activities of Daily Living
    3. Consider Orthotics, bracing and taping
    4. Consider Chronic Pain Management
    5. Consider Tai Chi
  3. Hypotonia or delayed motor development
    1. Physiotherapy
    2. Pool Exercise and other non-weight bearing activities
  4. Joint Pain
    1. NSAIDs
    2. Local Heat Therapy
    3. Local Cold Therapy
    4. Ergonomics
  5. Skin Wounds
    1. Close with two layers, and generous deep Sutures to reduce skin tension
    2. Skin protection (knee pads, shin pads or stockings)
  6. Bruising
    1. Avoid Aspirin and other agents affecting Platelets (increases Bruising)
    2. Vitamin C supplementation may reduce Bruising
  7. Bleeding complications
    1. Consider DDAVP
  8. Orthostasis
    1. Increase salt intake
    2. Compression Stockings
  1. At least 50% of Ehlers-Danlos Syndrome patients have an affected parent (remainder are de novo)
    1. Known parent with Classic Ehlers-Danlos Syndrome (EDS) has a 50% chance of a child with EDS
  • Resources
  1. Professional Resources (Ehlers-Danlos Society)
    1. https://www.ehlers-danlos.com/medical-professionals/