Abstract：
BACKGROUND: Pediatric pemphigus is a rare bullous disease that represents a diagnostic and therapeutic challenge; evidence on patients\' response to various treatments and long-term surveillance data are lacking. We aimed to investigate pediatric pemphigus patients\' characteristics, diagnosis, therapeutics, response, and long-term follow-up.
METHODS: This is a retrospective study of all pemphigus patients aged <18 years, diagnosed between 2000 and 2023, from three tertiary medical centers in Israel. The diagnosis was confirmed by positive immunofluorescence.
RESULTS: Twelve pediatric pemphigus patients were included (mean age 10.7 ± 4.3 years, male:female ratio 1:1). Mean diagnostic delay was 11.1 ± 12.6 months (range 1.8-36 months). Most patients had pemphigus vulgaris with mucosal involvement (58.3%). First-line treatment for all patients included systemic corticosteroids (sCS), with a treatment duration (including tapering down) of 28 ± 18.4 months. Hospitalization did not yield better outcomes. Only three patients achieved sustained complete response with sCS treatment (25.0%), and the rest required additional therapeutics, most commonly rituximab. Rituximab showed a good safety profile and therapeutic response. Follow-up was recorded up to 18.1 years after diagnosis (mean: 5.6 years). Three of five patients with information available more than 5 years after the pemphigus diagnosis still exhibited disease symptoms.
CONCLUSIONS: Pediatric pemphigus is associated with a significant diagnostic delay. While sCS can induce remission in most patients as a first-line treatment, long-term disease control requires additional immunomodulators. Long-term follow-up reveals a chronic yet mostly benign disease course in this population and advocates for the use of rituximab in pediatric pemphigus patients.
METHODS: This is a retrospective study of all pemphigus patients aged <18 years, diagnosed between 2000 and 2023, from three tertiary medical centers in Israel. The diagnosis was confirmed by positive immunofluorescence.
RESULTS: Twelve pediatric pemphigus patients were included (mean age 10.7 ± 4.3 years, male:female ratio 1:1). Mean diagnostic delay was 11.1 ± 12.6 months (range 1.8-36 months). Most patients had pemphigus vulgaris with mucosal involvement (58.3%). First-line treatment for all patients included systemic corticosteroids (sCS), with a treatment duration (including tapering down) of 28 ± 18.4 months. Hospitalization did not yield better outcomes. Only three patients achieved sustained complete response with sCS treatment (25.0%), and the rest required additional therapeutics, most commonly rituximab. Rituximab showed a good safety profile and therapeutic response. Follow-up was recorded up to 18.1 years after diagnosis (mean: 5.6 years). Three of five patients with information available more than 5 years after the pemphigus diagnosis still exhibited disease symptoms.
CONCLUSIONS: Pediatric pemphigus is associated with a significant diagnostic delay. While sCS can induce remission in most patients as a first-line treatment, long-term disease control requires additional immunomodulators. Long-term follow-up reveals a chronic yet mostly benign disease course in this population and advocates for the use of rituximab in pediatric pemphigus patients.
摘要：
背景：小儿天疱疮是一种罕见的大疱性疾病，代表着诊断和治疗的挑战；缺乏患者对各种治疗的反应和长期监测数据的证据。我们旨在调查小儿天疱疮患者的特征，诊断,治疗学,回应,和长期随访。
方法：这是一项对所有年龄<18岁的天疱疮患者的回顾性研究，在2000年至2023年之间诊断，来自以色列的三个三级医疗中心。免疫荧光阳性证实了诊断。
结果：纳入12例小儿天疱疮患者（平均年龄10.7±4.3岁，男性：女性比例为1：1）。平均诊断延迟为11.1±12.6个月（范围1.8-36个月）。大多数患者患有粘膜受累的寻常型天疱疮（58.3％）。所有患者的一线治疗包括全身性皮质类固醇（sCS），治疗持续时间（包括逐渐减少）为28±18.4个月。住院没有产生更好的结果。只有3名患者在sCS治疗中获得了持续的完全缓解（25.0％），其余的需要额外的治疗，最常见的是利妥昔单抗。利妥昔单抗显示出良好的安全性和治疗反应。随访记录到诊断后18.1年（平均：5.6年）。在天疱疮诊断超过5年后，获得信息的五名患者中有三名仍表现出疾病症状。
结论：小儿天疱疮与显著的诊断延迟有关。虽然sCS可以作为一线治疗在大多数患者中引起缓解，长期疾病控制需要额外的免疫调节剂.长期随访揭示了该人群的慢性但大多数是良性疾病过程，并主张在小儿天疱疮患者中使用利妥昔单抗。
方法：这是一项对所有年龄<18岁的天疱疮患者的回顾性研究，在2000年至2023年之间诊断，来自以色列的三个三级医疗中心。免疫荧光阳性证实了诊断。
结果：纳入12例小儿天疱疮患者（平均年龄10.7±4.3岁，男性：女性比例为1：1）。平均诊断延迟为11.1±12.6个月（范围1.8-36个月）。大多数患者患有粘膜受累的寻常型天疱疮（58.3％）。所有患者的一线治疗包括全身性皮质类固醇（sCS），治疗持续时间（包括逐渐减少）为28±18.4个月。住院没有产生更好的结果。只有3名患者在sCS治疗中获得了持续的完全缓解（25.0％），其余的需要额外的治疗，最常见的是利妥昔单抗。利妥昔单抗显示出良好的安全性和治疗反应。随访记录到诊断后18.1年（平均：5.6年）。在天疱疮诊断超过5年后，获得信息的五名患者中有三名仍表现出疾病症状。
结论：小儿天疱疮与显著的诊断延迟有关。虽然sCS可以作为一线治疗在大多数患者中引起缓解，长期疾病控制需要额外的免疫调节剂.长期随访揭示了该人群的慢性但大多数是良性疾病过程，并主张在小儿天疱疮患者中使用利妥昔单抗。
