Department of Dermatology, Center for Blistering Diseases, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands.
Br J Dermatol. 2012 Aug;167(2):374-82. doi: 10.1111/j.1365-2133.2012.10997.x. Epub 2012 Jul 5.
Junctional epidermolysis bullosa, type Herlitz (JEB-H) is a rare, autosomal recessive disease caused by absence of the epidermal basement membrane adhesion protein laminin-332. It is characterized by extensive and devastating blistering of the skin and mucous membranes, leading to death in early childhood.
To present the results of the long-term follow-up of a cohort of patients with JEB-H, and to provide guidelines for prognosis, treatment and care.
All patients with JEB-H included in the Dutch Epidermolysis Bullosa (EB) Registry between 1988 and 2011 were followed longitudinally by our EB team. Diagnosis was established using immunofluorescence antigen mapping, electron microscopy and DNA analysis.
In total, we included 22 patients with JEB-H over a 23-year period. Their average age at death was 5.8 months (range 0.5-32.6 months). The causes of death were, in order of frequency: failure to thrive, respiratory failure, pneumonia, dehydration, anaemia, sepsis and euthanasia. The pattern of initial weight gain was a predictor of lifespan in these patients. Invasive treatments to extend life did not promote survival in our patients.
It is important to diagnose JEB-H as soon as possible after birth so that the management can be shifted from life-saving to comfort care. The palliative end-of-life care can take place in hospital, but is also safe in the home setting. Suffering in patients with JEB-H can become so unbearable that in some patients who do not respond to adequate analgesic and sedative treatment, newborn euthanasia, performed according to the Groningen protocol, is legally permitted in the Netherlands.
交界性大疱性表皮松解症，赫尔利兹型（JEB-H）是一种罕见的常染色体隐性疾病，由表皮基底膜黏附蛋白层粘连蛋白-332 缺失引起。其特征为皮肤和黏膜广泛且严重的水疱，导致患儿在幼年早逝。
报告一组 JEB-H 患者的长期随访结果，并为预后、治疗和护理提供指导。
1988 年至 2011 年间，荷兰大疱性表皮松解症（EB）登记处纳入的所有 JEB-H 患者均由我们的 EB 团队进行纵向随访。采用免疫荧光抗原定位、电子显微镜和 DNA 分析确立诊断。
在 23 年的时间里，我们共纳入 22 例 JEB-H 患者。他们的平均死亡年龄为 5.8 个月（范围 0.5-32.6 个月）。死亡原因依次为：生长不良、呼吸衰竭、肺炎、脱水、贫血、败血症和安乐死。初始体重增加模式是这些患者生存时间的预测因素。侵入性延长生命的治疗方法并未延长我们患者的生存时间。
出生后尽快诊断 JEB-H 非常重要，以便治疗从挽救生命转向舒适护理。姑息性终末期护理可以在医院进行，也可以在家庭环境中安全进行。JEB-H 患者的痛苦可能变得难以忍受，以至于在一些对充分的镇痛和镇静治疗没有反应的患者中，根据格罗宁根协议，荷兰法律允许对新生儿进行安乐死。
