Dermatosparaxis Ehlers-Danlos syndrome

Jessica Bowen & Judy Tocher, Genetic Counsellors, EDS National Diagnostic Service, Sheffield Children’s Hospital

Please note: The following text cannot and should not replace advice from the patient's healthcare professional(s). Any person who experiences symptoms or feels that something may be wrong should seek individual, professional help for evaluation and/or treatment. This information is for guidance only and is not intended to provide individual medical advice.

This information is based on the experience and expertise of the UK’s EDS National Diagnostic Service.

Dermatosparaxis EDS (dEDS) is an extremely rare type of EDS with only a small number of known cases worldwide. It was previously known as EDS type VIIC. Unfortunately, as it is so rare, there is very little information about symptoms or management of dermatosparaxis EDS.

 

Features

One feature that helps to separate this type of EDS from others is the skin which tends to be saggy and redundant, looking more like a type of cutis laxa than other types of EDS. The skin is also extremely fragile. Other features include easy and significant bruising and large hernias.

 

Diagnosis

The diagnosis may be considered clinically by genetics or dermatology specialists and can be confirmed by genetic testing. The gene associated with dermatosparaxis EDS is called ADAMTS2. Characteristic findings on skin biopsy can also be used to make the diagnosis.

 

Genetics

Genes are the instructions that help us grow, develop and function. Our genes come in pairs, one from our mother and one from our father. People with dermatosparaxis EDS have alterations affecting both copies of their ADAMTS2 gene. They will generally have inherited one alteration from each of their parents, who would have one working copy of the gene. This is known as recessive inheritance, where both copies of the gene need to be altered to have the condition. People who have just one altered copy of the gene are called “carriers” and do not generally have any problems related to the condition.

 

Further information

If you have this diagnosis, or if this diagnosis is being considered in you, you may wish to be seen by the EDS National Diagnostic Service. Referrals may be made by an NHS hospital consultant.

Peer reviewed by: Dr Glenda Sobey, Consultant Dermatologist, EDS National Diagnostic Service, Sheffield Children’s Hospital and Carole Cummings, Genetic Counsellor, EDS National Diagnostic Service, Northwick Park and St Mark’s Hospitals

Date of last review: 01/08/2017

Date of next review: 01/08/2020

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