Answer
Apr 09, 2018 - 03:52 PM
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 (mutations) in the ADAMTS2 gene and is inherited in an autosomal recessive manner.
Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
Symptoms may include:
1. Soft, doughy skin that is extremely fragile
Severe bruising and scarring.
2. Saggy, redundant skin, especially on the face, hernias, short stature.
3. Delayed closure of the fontanelles.
4. Short fingers
5. Characteristic facial appearance with puffy eyelids, blue sclerae (whites of the eyes), epicanthal folds, downslanting palpebral fissures (outside corners of the eyes that point downward) and micrognathia.
6. Rupture of the bladder or diaphragm
7. Mild to severe joint hypermobility
(Please note:) This is a list of symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
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 (mutations) in the ADAMTS2 gene and is inherited in an autosomal recessive manner.
Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
Symptoms may include:
1. Soft, doughy skin that is extremely fragile
Severe bruising and scarring.
2. Saggy, redundant skin, especially on the face, hernias, short stature.
3. Delayed closure of the fontanelles.
4. Short fingers
5. Characteristic facial appearance with puffy eyelids, blue sclerae (whites of the eyes), epicanthal folds, downslanting palpebral fissures (outside corners of the eyes that point downward) and micrognathia.
6. Rupture of the bladder or diaphragm
7. Mild to severe joint hypermobility
(Please note:) This is a list of symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
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