What is Dermatosparaxis Ehlers-Danlos (dEDS)?

Dermatosparaxis Ehlers-Danlos syndrome (dEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility. EDS, dermatosparaxis type is caused by changes in the ADAMTS2 gene and is inherited in an autosomal recessive manner (a child of one parent with EDS has a 50% chance of inheriting).

Signs & Symptoms of Dermatosparaxis EDS

Individuals with Dermatosparaxis EDS may have the following features:

  • Joint disease
  • Aphasia
  • Dysphasia
  • Inflammation of the esophagus
  • Excessive wrinkled skin
  • Gastroesophageal reflux
  • Hernias
  • Hip dislocation and dysplasia
  • Hyperextensible skin
  • Hypotonia (low muscle tone)
  • Joint dislocations, stiffness and hyperflexibility
  • Osteoporosis
  • Prolonged bleeding time
  • Rickets
  • Scarring
  • Severe short stature
  • Thin skin

Occasionally there may be other features present including:

  • Prominent eye folds
  • Femoral hernia
  • Underdevelopment of the mandible
  • Scoliosis

Diagnosis of Dermatosparaxis Ehlers-Danlos Syndrome

There are nine major criteria and eleven minor criteria. Minimal criteria suggestive of dEDS include the two major criteria of extreme skin fragility and characteristic craniofacial features, plus either: one other major criterion, or three minor criteria.

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. General Joint Hypermobility
  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

A final diagnosis requires confirmation by molecular testing; dEDS is caused by biallelic mutations in ADAMTS2. It is the only gene associated with dEDS. Dermatosparaxis EDS is inherited in the autosomal recessive pattern.

Sources:  [1 Dermatosparaxis Ehlers-Danlos syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)]
[2 Ehlers-Danlos Society] [3 2017 International Classification of the Ehlers-Danlos Syndromes]

Support for Dermatosparaxis Ehlers-Danlos Syndrome

Please feel free to join our Nationwide Support Group “Loosely Speaking” on Facebook, or check out our more localised support groups to see if there is one within your area.

EDSNZ are working at compiling a list of resources of services and support you may be interested in. Among these are: