Dermatosparaxis EDS (dEDS)

Please note: The following text cannot and should not replace advice from the patient's healthcare professional(s). Any person who experiences symptoms or feels that something may be wrong should seek individual, professional help for evaluation and/or treatment. This information is for guidance only and is not intended to provide individual medical advice.

What is dEDS?

dEDS is an incredibly rare type of EDS and symptoms include skin which is extreme lose and fragile, severe bruising and craniofacial features.

What is the cause of dEDS?

dEDS is caused by variations in a person’s genes. dEDS is caused by variations in the ADAMTS2 gene.

How is dEDS diagnosed?

When diagnosing dEDS a list of common and relevant signs and symptoms of the condition are used. This is referred to as diagnostic criteria and in the case of dEDS it is split into a set of major and minor criteria.

The 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

The Minor criteria

1. Soft and doughy skin texture
2. Skin hyperextensibility
3. Atrophic scars
4. Generalised Joint Hypermobiliy
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

To meet the diagnostic criteria for dEDS a person must have:

Major criteria 1 (Extreme skin fragility with congenital or postnatal skin tears) and major criterion 2 (characteristic craniofacial features)

Plus

Either: one other major criterion

And/or: three minor criteria

If a person meets the criteria a genetic test is done to confirm the diagnosis. You can read more about genetic testing for the rare types of EDS here.

How is dEDS managed?

dEDS is managed through addressing the symptoms a person is experiencing. This is best done through being in the care of the NHS National EDS service; a specialised service for adults and children who have or are suspected to have a rare type of EDS.

For information about the service and for referral eligibility please click on the following links:

EDS National Diagnostic Service (based in London) covering the South of England

EDS National Diagnostic Service (based in Sheffield) covering the North of England