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American journal of medical genetics. Part A
Apr, 2025;197 (4): e63957.

The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series.

C Angwin, P Byers, E Dulfer, N Ghali, Juliette Harris, I Hausser, Abigail McElroy, G Sobey, F S van Dijk
Author Information
  1. C Angwin: National Ehlers Danlos Syndrome Service London, London North West University Healthcare NHS Trust, London, UK. ORCID
  2. P Byers: Department of Laboratory Medicine and Pathology, Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA.
  3. E Dulfer: Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.
  4. N Ghali: National Ehlers Danlos Syndrome Service London, London North West University Healthcare NHS Trust, London, UK.
  5. Juliette Harris: National Ehlers Danlos Syndrome Service London, London North West University Healthcare NHS Trust, London, UK.
  6. I Hausser: Institute of Pathology IPH, EM-Lab, Heidelberg University Hospital, Heidelberg, Germany.
  7. Abigail McElroy: Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.
  8. G Sobey: National Ehlers Danlos Syndrome Service Sheffield, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  9. F S van Dijk: National Ehlers Danlos Syndrome Service London, London North West University Healthcare NHS Trust, London, UK. ORCID
PMID: 39641471 DOI: 10.1002/ajmg.a.63957

Abstract

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 individuals (2:3 male:female) with an age range of 22-42 years. Complications include extreme skin fragility resulting in iatrogenic injury, redundant skin folds often requiring surgical resection, severe complications following a gastric volvulus secondary to a diaphragmatic hernia, and multiple fractures. Discussion of management considerations includes thorough investigations of acute pain, careful consideration of skin closure techniques and manual handling, as well as monitoring for reduced bone mineral density after low-impact fracture and/or post-menopause.

Keywords

Ehlers Danlos syndrome adulthood dermatosparaxis management skin fragility

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MeSH Term

Humans
Ehlers-Danlos Syndrome
Male
Female
Adult
Young Adult
Skin
Mutation
Case Reports Journal Article

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