Al Sayed Assem, Sumrall Chrystal
Family Medicine, William Carey University College of Osteopathic Medicine, Hattiesburg, USA.
Family Medicine, Hattiesburg Clinic, Laurel, USA.
Cureus. 2024 Nov 7;16(11):e73211. doi: 10.7759/cureus.73211. eCollection 2024 Nov.
Ehlers-Danlos syndrome (EDS) is a diverse group of hereditary connective tissue disorders resulting from mutations in genes involved in the synthesis and metabolism of collagens. Collagen, a structural protein in the connective tissues, plays an important role in maintaining the integrity and strength of various tissues, including the skin, ligaments, tendons, cartilage, and blood vessels. As such, EDS is characterized by joint hypermobility, skin elasticity, and tissue fragility. This paper discusses the case of an elderly patient with dermatosparaxis-type EDS (dEDS), a rare autosomal recessive subtype caused by mutations in the ADAMTS2 gene, leading to significant skin fragility, among other characteristic manifestations. This case highlights the complexities involved in the management of the diverse dermatological, orthopedic, and cardiovascular manifestations of dEDS and underscores the importance of individualized care plans that address the complexities of dEDS and improve the quality of life of dEDS patients.
埃勒斯-当洛综合征（EDS）是一组由参与胶原蛋白合成和代谢的基因突变引起的遗传性结缔组织疾病。胶原蛋白是结缔组织中的一种结构蛋白，在维持包括皮肤、韧带、肌腱、软骨和血管在内的各种组织的完整性和强度方面发挥着重要作用。因此，EDS的特征是关节活动过度、皮肤弹性和组织脆弱性。本文讨论了一例患有皮肤松弛型EDS（dEDS）的老年患者的病例，dEDS是一种由ADAMTS2基因突变引起的罕见常染色体隐性亚型，除其他特征性表现外，还导致明显的皮肤脆弱。该病例突出了dEDS各种皮肤、骨科和心血管表现管理中所涉及的复杂性，并强调了个性化护理计划的重要性，这些计划应解决dEDS的复杂性并提高dEDS患者的生活质量。
