Ehlers-Danlos Syndrome Dermatosparaxis Type

Common Name(s)

Ehlers-Danlos Syndrome Dermatosparaxis Type, Dermatosparaxis

Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen. The disorder and the responsible biochemical defect was first observed in cattle ({9:Lapiere et al., 1971}). {10:Lapiere and Nusgens (1993)} reviewed the discovery of dermatosparaxis in cattle, the elucidation of the disorder, its occurrence in other animals, and the delayed recognition of the disorder in the human. {2:Beighton et al. (1998)} reported on a revised nosology of the Ehlers-Danlos syndromes, designated the Villefranche classification. Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, including a category of 'unspecified forms.'
 

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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.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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

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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

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