Ehlers-Danlos syndrome dermatosparaxis type

Dermatosparaxis

Overview

Type of disease: Rare conditions

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.

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