Ehlers-Danlos syndrome dermatosparaxis type

Common Name(s)

Ehlers-Danlos syndrome dermatosparaxis type, Dermatosparaxis

Ehlers-Danlos syndrome (EDS) is a rare tissue disorder that has six specific types. EDS affects a person’s connective tissue, which separates, connects and supports different organs in the body. People with EDS usually cannot make enough normal collagen, a connective tissue protein.

Ehlers-Danlos syndrome dermatosparaxis type (EDS VIIC) is a very rare form of EDS, with roughly 10 cases reported. People with dermatosparaxis type EDS have extremely fragile skin and bruise very easily, although wound healing is normal. Skin is usually soft and “doughy”, as well as characteristically saggy, wrinkly, and folded on the face (resembling cutis laxa syndrome). Babies born with dermatosparaxis type often have a soft “out-pouching” around the belly button or groin due to an umbilical or inguinal hernia- a condition where a section of the intestines pokes through a weakness in the abdominal muscles inside the body. Joints are very loose (hypermobile) and may dislocate, which can delay the development of motor skills (sitting, standing, walking) and cause pain. Other symptoms include a small chin, a blue tinge in the white part of the eyeball (sclera), and short stature.

There is no cure for dermatosparaxis type EDS; it is a life-long condition that requires close monitoring. Management includes physiotherapy, padding, and lifestyle changes.

Dermatosparaxis type EDS is passed through families in an autosomal recessive manner, meaning that a person needs to inherit two copies of the defective gene in order to develop the disorder. It is caused by mutations in the ADAMTS2 gene, affecting an enzyme needed to make collagen correctly. If you or your child has been diagnosed with dermatosparaxis type EDS, talk to your doctor about the most current treatment options. A genetic counselor can be helpful to discuss inheritance and risks to other family members. Support groups are also available for more resources and information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ehlers-Danlos syndrome dermatosparaxis type" for support, advocacy or research.

Ehlers-Danlos Support UK

EDS UK was set up in 1987 to support, advise and inform those living with Ehlers-Danlos Syndrome. We aim to help them live a full, active and positive life. Over 25 years later, we remain the only UK based charity that exclusively represents and supports people with all types of EDS. We run regular events and conferences to bring our community together, and produce literature and merchandise to increase understanding and improve management of the condition. We have over 30 support groups around the country to provide our members with a local peer support network and we hope to expand this

Last Updated: 8 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ehlers-Danlos syndrome dermatosparaxis type" for support, advocacy or research.

Ehlers-Danlos Support UK

EDS UK was set up in 1987 to support, advise and inform those living with Ehlers-Danlos Syndrome. We aim to help them live a full, active and positive life. Over 25 years later, we remain the only UK based charity that exclusively represents and supports people with all types of EDS. We run regular events and conferences to bring our community together, and produce literature and merchandise to increase understanding and improve management of the condition. We have over 30 support groups around the country to provide our members with a local peer support network and we hope to expand this

http://www.ehlers-danlos.org

Last Updated: 8 Jul 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ehlers-Danlos syndrome dermatosparaxis type" returned 2 free, full-text research articles on human participants. First 3 results:

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
 

Author(s): A Colige, A L Sieron, S W Li, U Schwarze, E Petty, W Wertelecki, W Wilcox, D Krakow, D H Cohn, W Reardon, P H Byers, C M Lapière, D J Prockop, B V Nusgens

Journal: Am. J. Hum. Genet.. 1999 Aug;65(2):308-17.

 

Ehlers-Danlos syndrome (EDS) type VIIC is a recessively inherited connective-tissue disorder, characterized by extreme skin fragility, characteristic facies, joint laxity, droopy skin, umbilical hernia, and blue sclera. Like the animal model dermatosparaxis, EDS type VIIC results ...

Last Updated: 20 Aug 1999

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Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
 

Author(s): L T Smith, W Wertelecki, L M Milstone, E M Petty, M R Seashore, I M Braverman, T G Jenkins, P H Byers

Journal: Am. J. Hum. Genet.. 1992 Aug;51(2):235-44.

 

Dermatosparaxis is a recessively inherited connective-tissue disorder that results from lack of the activity of type I procollagen N-proteinase, the enzyme that removes the amino-terminal propeptides from type I procollagen. Initially identified in cattle more than 20 years ago, the ...

Last Updated: 1 Sep 1992

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ehlers-Danlos syndrome dermatosparaxis type" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.