Dermatosparaxis Ehlers-Danlos

Dermatosparaxis Ehlers-Danlos (dEDS) previously known as EDSVIIC, it is inherited by autosomal recessive biallelic mutations for ADAMTS2. Patients with dEDS tend to demonstrate common body features such as short stature and finger length, loose skin on the face with full eyelids and blue-tinged sclera. Major issues with dEDS can include hernias (displacement of organs), lengthy wound healingProne. to ruptures in the diaphragm and bladder. 

 

Minimal criteria to suggest a dEDS diagnosis is the first and second major criteria, plus either: one other major criterion, and/or three minor criteria. Molecular testing is required to confirm a diagnosis. When genetic testing is unavailable SDS, PAGE demonstrates the presence of pNa1(I) and pNa2(I) chains of type 1 procollagen extracted from the dermis in the presence of protease inhibitors or detected fibroblast cultures. Currently, the absence of molecular or other laboratory findings does not exclude a dEDS diagnosis as specific mutations may go undetected by standard diagnostic testing, 

Major Criteria:

1. Extreme skin fragility with congenital or postnatal skin tears;

2. Characteristic craniofacial features, which are evident from birth or early infancy;

3. Redundant, almost lax skin, with excessive skinfolds 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. Generalised Joint Hypermobility;

5. Complications of visceral fragility;

6. Delayed motor development;

7. Osteopenia;

8. Hirsutism;

9. Tooth abnormalities;

10. Refractive errors (myopia, astigmatism)

11. Strabismus)

For more information see The Ehlers-Danlos Society

References

The 2017 International Classification of the Ehlers–Danlos Syndromes