Article
The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series.
American journal of medical genetics. Part A - 1 Apr 2025
Angwin C, Byers P, Dulfer E, Ghali N, Harris Juliette, Hausser I, McElroy Abigail, Sobey G, van Dijk F S
Abstract excerpt
Dermatosparaxis Ehlers Danlos syndrome (dEDS) is a very rare monogenic EDS that occurs due to biallelic pathogenic variants in ADAMTS2. Fifteen individuals with dEDS have been reported in the literature, with the oldest being 19 years at follow-up. Given the lack of information regarding adults with dEDS, our aim was to describe adults with dEDS to inform management recommendations in adulthood. We report five...
Topics
- Humans
- Ehlers-Danlos Syndrome
- Male
- Female
- Adult
- Young Adult
- Skin
- Mutation