Arthrochalasia Ehlers-Danlos

Arthrochalasia Ehlers-Danlos (aEDS) formally known as EDSVII, it is inherited by an autosomal dominant mutation in either COL1A1 or COL1A2 that cause an entire or partial loss of exon 6. Absence of a causative mutation in COL1A1 or COL1A2 that leads to complete or partial deletion of the exon 6 of either gene excludes the aEDS diagnosis.

 

Minimal criteria to suggest an aEDS diagnosis are the first major criteria, plus either major criterion 3; or major criterion 2 with at least two minor criteria.

aEDS is associated with an ongoing risk of dislocation in multiple major joints. These significant and often concurrent dislocations can make mobility challenging with young children often demonstrating severe muscular hypotonia and bilateral his dislocations. 

 

Molecular testing is required to confirm a diagnosis. Where genetic testing is unavailable SDS PAGE of the pepsin-digested collagen in the medium or cell layer of cultured dermal fibroblasts demonstrates the presence of a mutant pNA1(I) or PNa2(I) chain. 

Major Criteria:

1. Congenital bilateral hip dislocation; 

2. Severe generalised joint hypermobility, with multiple dislocations/subluxations; and

3. Skin hyperextensibility. 

Minor Criteria:

1. Muscle hypotonia;

2. Kyphoscoliosis;

3. Radiologically mild osteopenia;

4. Tissue fragility, including atrophic scars;

5. Easy bruisable skin. 

For more information see The Ehlers-Danlos Society

References

The 2017 International Classification of the Ehlers–Danlos Syndromes