Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
G Ital Dermatol Venereol. 2013 Feb;148(1):13-36.
Joint hypermobility syndrome, alternatively termed Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common, though the least recognized heritable connective tissue disorder. While its leading clinical features typically affect joints, recent evidence indicates a wider spectrum of satellite symptoms/dysfunctions, involving practically all major systems and organs. Accordingly, clinical research on JHS/EDS-HT is moving from rheumatology and clinical genetics to other disciplines, including neurology, clinical psychology, ophthalmology, cardiology and gynecology/obstetrics. As the skin is one of the most commonly affected and, surely, the easiest to assess body part in heritable connective tissue disorders, it is expected that also the dermatologist should be trained to recognize this condition. In this review, JHS/EDS-HT is presented and discussed in separate sections dedicated to all major aspects of diagnosis, differential diagnosis, clinical features, natural history and principles of management. Particular attention is posed on the role of epidermal, dermal and mucosal assessment in JHS/EDS-HT is order to rise the attention to a series of too neglected, though quite common manifestations of this condition. Management principles are presented with a multidisciplinary approach in mind, covering pharmacologic, physical and occupational therapy, surgical, and nutriceutical aspects, as well as general lifestyle recommendations. Connections with organs and systems other than joints and skin are also discussed.
关节过度活动综合征,也称埃勒斯-当洛斯综合征过度活动型(JHS/EDS-HT),可能是最常见的,但也是最容易被忽视的遗传性结缔组织疾病。虽然其主要临床特征通常影响关节,但最近的证据表明存在更广泛的卫星症状/功能障碍,涉及几乎所有主要系统和器官。因此,JHS/EDS-HT 的临床研究正从风湿病学和临床遗传学转向其他学科,包括神经病学、临床心理学、眼科学、心脏病学和妇产学/产科学。由于皮肤是遗传性结缔组织疾病中最常受影响的部位之一,而且无疑是最容易评估的身体部位,因此预计皮肤科医生也应该接受培训以识别这种情况。在这篇综述中,JHS/EDS-HT 按照诊断、鉴别诊断、临床特征、自然病史和管理原则等各个主要方面进行了介绍和讨论。特别关注表皮、真皮和黏膜评估在 JHS/EDS-HT 中的作用,以引起对这一病症中一系列被忽视但相当常见的表现的关注。管理原则是基于多学科方法提出的,涵盖了药物治疗、物理和职业治疗、手术以及营养方面,以及一般的生活方式建议。还讨论了与关节和皮肤以外的器官和系统的联系。