Classic Ehlers-Danlos Syndrome

Aka: Classic Ehlers-Danlos Syndrome, Classic Ehlers Danlos Syndrome, Classic EDS

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II. Pathophysiology

  1. Autosomal Dominant
  2. Genes: COL5A1, COL5A2, COL1A1

III. Findings

  1. Skin Hyperextensibility
  2. Atrophic Scarring
  3. Generalized joint Hypermobility
  4. Positive Beighton Hypermobility Score (see below)

IV. Exam

  1. Skin
    1. Soft dough-like feel
    2. Hyperextensible
    3. Fragile (splits easily with minor Trauma)
      1. Joint surfaces (e.g. knees, elbows)
      2. Trauma prone regions (e.g. chin, shins)
    4. Poor Wound Healing (with scar Stretching)
    5. Easy Bruising
  2. Joints
    1. Hypermobile
    2. Dislocations are common (e.g. Shoulder, Patella, fingers, hip, radius, clavicle)
      1. Often relocated by the patient without medical assistance
  3. Neurologic
    1. Hypotonia
    2. Delayed motor development
    3. Muscle Fatigue
    4. Myalgias
  4. Cardiovascular
    1. Mitral Valve Prolapse (uncommon, and typically benign)
    2. Aortic root dilation (uncommon, and typically static)

V. Diagnosis

  1. See Generalized Joint Hypermobility Diagnosis (Beighton Hypermobility Score, Five Point Hypermobility Questionnaire)
  2. Positive Beighton Hypermobility Score (with or without Five Point Hypermobility Questionnaire)
  3. Major Criteria
    1. Skin hyperextensibility AND
    2. Atrophic Scarring AND
    3. Generalized joint Hypermobility OR 3 minor criteria
  4. Minor Criteria (3 required if absence of Generalized joint Hypermobility)
    1. Easy Bruising
    2. Soft doughy skin
    3. Skin fragility or Traumatic splitting
    4. Molluscoid pseudotumors
      1. Elevated lesions over scarred pressure points (e.g. elbows, knees)
    5. Subcutaneous spheroids
      1. Small round hard densities mobile and palpable within the skin of the forarm or shin
    6. Hernia
    7. Epicanthal Folds
    8. Joint Hypermobility complications (sprains, dislocations, flexible flat foot)
    9. First degree relative with Ehlers-Danlos Syndrome diagnostic criteria met
  5. Genetic Confirmation (panel)
    1. COL5A1
    2. COL5A2
    3. COL1A1 (less common)

VI. Management

  1. See Ehlers-Danlos Syndrome

VII. References

  1. Malfait in Adam (2018) Classic Ehlers Danlos Syndrome, GeneReviews
    1. https://www.ncbi.nlm.nih.gov/books/NBK1244/
  2. Malfait (2017) Am J Med Genet C Semin Med Genet 175(1): 8-26 +PMID:28306229 [PubMed]
  3. Yew (2021) Am Fam Physician 103(8): 481-92 [PubMed]

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