Angwin C, Byers P, Dulfer E, Ghali N, Harris Juliette, Hausser I, McElroy Abigail, Sobey G, van Dijk F S
National Ehlers Danlos Syndrome Service London, London North West University Healthcare NHS Trust, London, UK.
Genetics and Genomics Section, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.
Am J Med Genet A. 2025 Apr;197(4):e63957. doi: 10.1002/ajmg.a.63957. Epub 2024 Dec 6.
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.
皮肤松弛型埃勒斯-当洛综合征（dEDS）是一种非常罕见的单基因埃勒斯-当洛综合征，由ADAMTS2基因的双等位基因致病性变异引起。文献中报道了15例dEDS患者，随访时年龄最大的为19岁。鉴于缺乏关于成年dEDS患者的信息，我们的目的是描述成年dEDS患者，以便为成年期的管理建议提供依据。我们报告了5例患者（男性2例，女性3例），年龄在22至42岁之间。并发症包括导致医源性损伤的极度皮肤脆弱、常需手术切除的多余皮肤褶皱、继发于膈疝的胃扭转后的严重并发症以及多处骨折。管理考虑因素的讨论包括对急性疼痛进行全面检查、仔细考虑皮肤闭合技术和人工搬运，以及监测低冲击力骨折后和/或绝经后的骨密度降低情况。
