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

doi:10.1002/ajmg.a.63957

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

Am J Med Genet A. 2024 Dec 6:e63957. doi: 10.1002/ajmg.a.63957. Online ahead of print.

Authors

C Angwin^{1

2}, P Byers³, E Dulfer⁴, N Ghali^{1

2}, Juliette Harris^{1

2}, I Hausser⁵, Abigail McElroy⁶, G Sobey⁷, F S van Dijk^{1

2}

Affiliations

¹ National Ehlers Danlos Syndrome Service London, London North West University Healthcare NHS Trust, London, UK.
² Genetics and Genomics Section, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.
³ Department of Laboratory Medicine and Pathology, Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA.
⁴ Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.
⁵ Institute of Pathology IPH, EM-Lab, Heidelberg University Hospital, Heidelberg, Germany.
⁶ Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.
⁷ National Ehlers Danlos Syndrome Service Sheffield, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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.

Publication types

Case Reports