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Dermatosparaxis

Dermatosparaxis EDS (dEDS)

  • Inheritance

Autosomal recessive

  • Major criteria:

  1. Extreme skin fragility with congenital or postnatal skin tears
  2. Characteristic craniofacial features, which are evident at birth or early infancy, or evolve later in childhood
  3. Redundant, almost lax skin, with excessive skin folds at the wrists and ankles
  4. Increased palmar wrinkling
  5. Severe bruisability with a risk of subcutaneous hematomas and haemorrhage
  6. Umbilical hernia
  7. Postnatal growth retardation
  8. Short limbs, hand and feet
  9. Perinatal complications due to connective tissue fragility
  • Minor criteria

  1. Soft and doughy skin texture
  2. Skin hyperextensibility
  3. Atrophic scars
  4. Generalized joint hypermobility (GJH)
  5. Complications of visceral fragility (e.g., bladder rupture, diaphragmatic rupture, rectal prolapse)
  6. Delayed motor development
  7. Osteopenia
  8. Hirsutism
  9. Tooth abnormalities
  10. Refractive errors (myopia, astigmatism)
  11. Strabismus

 

  • Minimal criteria suggestive for dEDS:

–Major criterion (1): extreme skin fragility
–AND major criterion (2): characteristic craniofacial features
Plus

–Either: one other major criterion
–And/or: three minor criteria
Confirmatory molecular testing is obligatory to reach a final diagnosis.

  • Molecular basis

dEDS is caused by biallelic mutations in ADAMTS2, the gene encoding ADAMTS-2, the main procollagen I N-proteinase. It is the only gene associated with dEDS.

Resource:

The 2017 international classification of the Ehlers–Danlos syndromes

 

Individuals demonstrate severe skin fragility and bruising. Wound healing is not impaired and the scars are not atrophic, skin texture is soft and doughy. Sagging, redundant skin is evident. The redundancy of facial skin results in an appearance resembling cutis laxa. Large hernias (umbilical, inguinal) may also be seen.