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

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.

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Publication Details

Journal
American Journal of Medical Genetics Part A
Published
2024-12-06
DOI
https://doi.org/10.1002/ajmg.a.63957
Citations
3
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
1.65
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article

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

Peter H. Byers, Juliette Harris, Glenda Sobey, Ingrid Haußer et al.
3 citations
American Journal of Medical Genetics Part A
Connective tissue disorders research
1.65
article

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

Peter H. Byers, Juliette Harris, Glenda Sobey, Ingrid Haußer, Eelco Dulfer, Chloe Angwin, Abigail McElroy, Neeti Ghali, Fleur S. van Dijk
article en
3 citations

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.

American Journal of Medical Genetics Part AVol. 197(4)
University Medical Center Groningen (NL), University of Massachusetts Chan Medical School (US), Heidelberg University (DE), London North West Healthcare NHS Trust (GB), University of Washington Medical Center (US), University Hospital Heidelberg (DE), Sheffield Children's NHS Foundation Trust (GB), Genomics (United Kingdom) (GB), Imperial College London (GB)
Good health and well-being
Openalex Percentile: Top 14%
Connective tissue disorders research
1.65
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