Ehlers-Danlos Syndrome, Dermatosparaxis Type

What is Ehlers-Danlos syndrome, dermatosparaxis type?

Ehlers-Danlos syndrome is a group of inherited disorders that affect connective tissue, the tissue that binds and supports the body's muscles, ligaments, organs, and skin. The dermatosparaxis type is characterised by extremely fragile and sagging skin. This form of Ehlers-Danlos syndrome was formerly called type VIIC.

Ehlers-Danlos syndrome, dermatosparaxis type is a subtype of Ehlers-Danlos syndrome.

People with this form of Ehlers-Danlos syndrome have soft, doughy skin that is very fragile and bruises easily. The skin sags and wrinkles, and extra (redundant) folds of skin may be present as children get older. Joints are very loose, which can delay the development of motor skills such as sitting, standing, and walking. Infants with the condition are born with a soft out-pouching around the belly-button (an umbilical hernia). Other symptoms include a small chin, a blue tinge to the part of the eyeball that is usually white (the sclera), and mild overgrowth of body hair.

How common is Ehlers-Danlos syndrome, dermatosparaxis type?

This type of Ehlers-Danlos syndrome is extremely rare: fewer than 10 cases have been reported worldwide.

What genes are related to Ehlers-Danlos syndrome, dermatosparaxis type?

Mutations in the ADAMTS2 gene cause Ehlers-Danlos syndrome, dermatosparaxis type.

The ADAMTS2 gene makes an enzyme that helps process procollagens, which are proteins used to assemble larger molecules called collagens. Collagens provide structure and strength to connective tissue throughout the body. Mutations in the ADAMTS2 gene completely inactivate the enzyme made by the gene. As a result, procollagen is not processed, and collagen molecules cannot be assembled properly. These defects weaken connective tissue, particularly in the skin, causing the signs and symptoms of the condition.

How do people inherit Ehlers-Danlos syndrome, dermatosparaxis type?

This type of Ehlers-Danlos syndrome is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.

What other names do people use for Ehlers-Danlos syndrome, dermatosparaxis type?

  • Dermatosparactic type of Ehlers-Danlos syndrome
  • Dermatosparaxis
  • EDS type VIIC
  • EDS VIIC
  • Human dermatosparaxis

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