Conditions
Dermatosparaxis Ehlers-Danlos syndrome (dEDS)
A very rare type of EDS with extremely fragile, loose skin that tears and bruises easily, often noticed from birth.
About Dermatosparaxis EDS
Dermatosparaxis Ehlers-Danlos syndrome (dEDS) is a very rare condition. A child gets it when a gene change in the ADAMTS2 gene comes from both parents. This gene helps the body finish making type I collagen, a protein that gives skin its strength.
Skin is extremely fragile and can tear easily, sometimes from birth. It is also loose and saggy, with extra folds at the wrists and ankles, and bruises can become large. Many people have a belly button hernia, grow slowly after birth, and have short arms, legs, hands and feet. Most people are recognized as babies, but milder forms have also been described.
A clinical geneticist usually makes the diagnosis. A genetic test of the ADAMTS2 gene is the main test. A collagen test on a small skin sample is sometimes used.
Before a visit, it helps to record skin tears and how they healed, problems at birth, large bruises or bleeding, and hernias. Growth, eye and teeth problems, and photos of skin are useful too.
Who usually evaluates it: Usually a clinical geneticist, working with other clinicians who care for the skin and wounds.
What you can record in Selihc Health
- Skin tears and how they healed, with photos
- Problems at birth, such as bleeding, broken bones or skin tears
- Large bruises or swellings under the skin, bleeding, and hernias
- Growth as a child, and when you sat and walked
- Your own check of loose skin folds, palm wrinkles and the length of your arms, legs, hands and feet, labeled as self-reported
- Eye, teeth, bone density and genetic test reports, with the findings and genes they name
What only a clinician can do
- Examining the face, skin and joints
- Measuring growth and limb length
- Deciding on genetic testing of ADAMTS2 or collagen tests on a skin sample, and explaining the result
In an emergency
Call 911 for bleeding that will not stop with firm pressure, or for a swelling under the skin that keeps growing after a bump. Also call 911 for sudden, severe belly pain, heavy bleeding from the bottom, or a sudden, very bad headache. Call 911 if someone feels faint, confused, cold and clammy after an injury or bleeding. Get medical care the same day for a skin tear, so it can be closed with care.
The published criteria
Your summary organizes your records against these sources, for your clinician to review. What clinicians see
Dermatosparaxis Ehlers-Danlos syndrome: 2017 international classification
Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. doi:10.1002/ajmg.c.31552
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This page is general information written for patients, not medical advice. Content is a draft awaiting clinical review.
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