Kho Yong Chern, Rhodes Lesley M, Robertson Susan J, Su John, Varigos George, Robertson Ian, Hogan Peter, Orchard David, Murrell Dedee F
Department of Dermatology, University of New South Wales, St George Hospital, Kogarah NSW 2217, Sydney, Australia.
Arch Dermatol. 2010 Jun;146(6):635-40. doi: 10.1001/archdermatol.2010.109.
To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia.
Observational study (cross-sectional and longitudinal).
Australian private dermatology practice, inpatient ward, and outpatient clinic.
Systematic case finding of patients with EB simplex, junctional EB (JEB), and dystrophic EB and data collection were performed throughout Australia and New Zealand from January 1, 2006, through December 31, 2008. Patients were consecutively enrolled in the study after clinical assessment and laboratory diagnosis. Medical records were retrospectively examined, and physicians involved in EB care were contacted to obtain patient history. A Herlitz JEB case series was prepared from registry data.
Demographics and prognosis of patients with Herlitz JEB.
A total of 259 patients were enrolled in the study: 139 with EBS, 91 with dystrophic EB, 28 with JEB, and 1 with Kindler syndrome. Most enrollees were Australian citizens (n = 243), with an Australian prevalence rate of 10.3 cases per million. The age range in the registry was birth to 99 years, with a mean and median age of 24.1 and 18.0 years, respectively. Ages were similar in patients with EBS and dominant dystrophic EB but were markedly lower in patients with JEB. Patients with Herlitz JEB (n = 10) had the highest morbidity and mortality rates, with a mean age at death of 6.8 months. Sepsis, failure to thrive, and tracheolaryngeal complications were the leading causes of death.
The Australasian EB registry is the first registry in Australia and New Zealand to provide original data on age, sex, ethnicity, and geographical and disease subtype distribution. The Australasian Herlitz JEB cohort witnessed a high infant mortality rate and poor prognosis overall.
呈现来自澳大利亚大疱性表皮松解症（EB）登记处的流行病学和临床数据，该登记处是澳大利亚首个罕见病登记处。
观察性研究（横断面研究和纵向研究）。
澳大利亚私立皮肤科诊所、住院病房和门诊诊所。
2006年1月1日至2008年12月31日期间在澳大利亚和新西兰对单纯性EB、交界性EB（JEB）和营养不良性EB患者进行系统病例查找并收集数据。患者经临床评估和实验室诊断后连续纳入研究。对病历进行回顾性检查，并联系参与EB治疗的医生以获取患者病史。根据登记处数据编制了赫利茨JEB病例系列。
赫利茨JEB患者的人口统计学特征和预后。
共有259名患者纳入研究：139例单纯性EB患者，91例营养不良性EB患者，28例JEB患者，1例Kindler综合征患者。大多数登记参与者为澳大利亚公民（n = 243），澳大利亚的患病率为每百万人口10.3例。登记处患者年龄范围为出生至99岁，平均年龄和中位数年龄分别为24.1岁和18.0岁。单纯性EB和显性营养不良性EB患者的年龄相似，但JEB患者的年龄明显更低。赫利茨JEB患者（n = 10）的发病率和死亡率最高，平均死亡年龄为6.8个月。败血症、发育不良和气管喉并发症是主要死因。
澳大利亚大疱性表皮松解症登记处是澳大利亚和新西兰首个提供有关年龄、性别、种族以及地理和疾病亚型分布原始数据的登记处。澳大利亚赫利茨JEB队列的婴儿死亡率高，总体预后不良。
