BACKGROUND Synovitis,acne,pustulosis,hyperostosis,and osteitis(SAPHO)syndrome is a rare autoinflammatory disease for which clinical treatment has not been standardized.Janus kinase(JAK)inhibitors represent a novel the...BACKGROUND Synovitis,acne,pustulosis,hyperostosis,and osteitis(SAPHO)syndrome is a rare autoinflammatory disease for which clinical treatment has not been standardized.Janus kinase(JAK)inhibitors represent a novel therapeutic option for rheumatoid arthritis,psoriatic arthritis,and some other autoinflammatory diseases.However,the clinical utility of JAK inhibitors in treating SAPHO syndrome has not been thoroughly investigated.In this study,we describe a patient with SAPHO syndrome who failed to respond to conventional treatment but demonstrated a remarkable and rapid response to the JAK inhibitor tofacitinib.CASE SUMMARY A 62-year-old female patient presented with swelling and pain at the sternoclavicular joints,back pain that limited her activities,arthralgia in the right knee,and cutaneous lesions.Her symptoms were unresponsive to nonsteroidal anti-inflammatory drugs,disease-modifying antirheumatic drugs,Tripterygium wilfordii hook f,and bisphosphonates.SAPHO syndrome was diagnosed in accordance with dermatological and osteoarticular manifestations and abnormal inflammatory factors.Multiple image studies have illustrated bone lesions and pathological fractures of vertebral bodies.Oral treatment with tofacitinib at 5 mg twice daily with methotrexate and bisphosphonates was initiated.The patient reported that her pain symptoms were relieved after 3 d and her cutaneous lesions were reduced after 4 wk of treatment.Vertebral lesions were improved after 6 mo on tofacitinib.No serious adverse effects were noted.CONCLUSION JAK inhibitor therapy may be a promising strategy to treat SAPHO syndrome.展开更多
BACKGROUND Pyogenic arthritis,pyoderma gangrenosum,and acne(PAPA)syndrome is a rare autosomal dominant genetic disease characterized by severe autoimmune inflammation,caused by mutations in the PSTPIP1 gene.Due to PAP...BACKGROUND Pyogenic arthritis,pyoderma gangrenosum,and acne(PAPA)syndrome is a rare autosomal dominant genetic disease characterized by severe autoimmune inflammation,caused by mutations in the PSTPIP1 gene.Due to PAPA heterogeneous clinical manifestation,misdiagnosis or delayed diagnoses are difficult to avoid.With the use of whole-exome sequencing,we identified a missense mutation in the PSTPIP1 gene in a Chinese family.To the best of our knowledge,this is the first case of PAPA reported in China.CASE SUMMARY A 9-year-old boy suffered from recurrent aseptic pyogenic arthritis triggered by minor trauma or few obvious predisposing causes for more than 3 years.Pyogenic arthritis occurred every 3-5 mo,affecting his knees,elbows,and ankle joints.Treatments,such as glucocorticoids,antibiotics,even surgeries could alleviate joints pain and swelling to some extent but could not inhibit the recurrence of arthritis.Similar symptoms were present in his younger brother but not in his parents.According to the whole-exome sequencing,a missense mutation in exon 11 of the PSTPIP1 gene(c.748G>C;p.E250Q)was detected in the boy,his young-er brother and his father.Taking into account the similar phenotypic features with PAPA syndrome reported previously,we confirmed a diagnosis of PAPA syndrome for the family.CONCLUSION In this case,a missense mutation(c.748G>C;p.E250Q)in PSTPIP1 gene was identified in a Chinese family with PAPA syndrome.Previous studies emphasize the fact that PAPA syndrome is hard to diagnose just through the clinical manifestations owing to its heterogeneous expression.Genetic testing is an effectual auxiliary diagnostic method,especially in the early stages of pyogenic arthritis.Only if we have a deep understanding and rich experience of this rare disease can we make a prompt diagnosis,develop the best clinical treatment plan,and give good fertility guidance.展开更多
目的:探究“针-药-模”结合治疗粉刺病肺胃热蕴证的临床效果。方法:收集2020年10月—2022年9月上海市嘉定区中医医院皮肤科门诊收治的粉刺病肺胃热蕴证患者150例,根据随机数字表法将其分为针-药-模治疗组(桑枇消痤颗粒+毫火针+石膏倒模...目的:探究“针-药-模”结合治疗粉刺病肺胃热蕴证的临床效果。方法:收集2020年10月—2022年9月上海市嘉定区中医医院皮肤科门诊收治的粉刺病肺胃热蕴证患者150例,根据随机数字表法将其分为针-药-模治疗组(桑枇消痤颗粒+毫火针+石膏倒模)、针-药对照组(桑枇消痤颗粒+毫火针)、药-模对照组(桑枇消痤颗粒+石膏倒模),每组50例,均每周治疗1次,持续治疗4周。观察3组患者的临床疗效,比较3组治疗前后皮疹情况及生活质量[皮肤病生活质量指数量表(dermatology quality of life index,DLQI)],统计不良反应发生情况与复发率。结果:治疗4周后,针-药-模治疗组临床有效率高于针-药对照组、药-模对照组,差异有统计学意义;针-药对照组与药-模对照组比较,差异无统计学意义。3组患者皮疹情况评分、DLQI评分与治疗前比较均降低,且针-药-模治疗组低于针-药对照组及药-模对照组,差异有统计学意义;针-药对照组与药-模对照组比较,差异无统计学意义。治疗期间,3组患者不良反应发生情况比较,差异无统计学意义;结束治疗后2个月,针-药-模治疗组复发率低于针-药对照组、药-模对照组,差异有统计学意义;针-药对照组与药-模对照组比较,差异无统计学意义。结论:与“药-模”及“针-药”治疗相比,“针-药-模”相结合的综合治疗方法在粉刺病肺胃热蕴证的治疗中临床疗效更为显著,有效改善患者皮疹情况,提高生活质量,减少复发,安全性可靠。展开更多
文摘BACKGROUND Synovitis,acne,pustulosis,hyperostosis,and osteitis(SAPHO)syndrome is a rare autoinflammatory disease for which clinical treatment has not been standardized.Janus kinase(JAK)inhibitors represent a novel therapeutic option for rheumatoid arthritis,psoriatic arthritis,and some other autoinflammatory diseases.However,the clinical utility of JAK inhibitors in treating SAPHO syndrome has not been thoroughly investigated.In this study,we describe a patient with SAPHO syndrome who failed to respond to conventional treatment but demonstrated a remarkable and rapid response to the JAK inhibitor tofacitinib.CASE SUMMARY A 62-year-old female patient presented with swelling and pain at the sternoclavicular joints,back pain that limited her activities,arthralgia in the right knee,and cutaneous lesions.Her symptoms were unresponsive to nonsteroidal anti-inflammatory drugs,disease-modifying antirheumatic drugs,Tripterygium wilfordii hook f,and bisphosphonates.SAPHO syndrome was diagnosed in accordance with dermatological and osteoarticular manifestations and abnormal inflammatory factors.Multiple image studies have illustrated bone lesions and pathological fractures of vertebral bodies.Oral treatment with tofacitinib at 5 mg twice daily with methotrexate and bisphosphonates was initiated.The patient reported that her pain symptoms were relieved after 3 d and her cutaneous lesions were reduced after 4 wk of treatment.Vertebral lesions were improved after 6 mo on tofacitinib.No serious adverse effects were noted.CONCLUSION JAK inhibitor therapy may be a promising strategy to treat SAPHO syndrome.
基金Supported by the National Natural Science Foundation of China,No.81770875the Post-Doctor Research Project,West China Hospital,Sichuan University,No.19HXBH053+1 种基金the Health and Family Planning Commission of Sichuan Province,No.19PJ096the 1.3.5 Project for Disciplines of Excellence,West China Hospital,Sichuan University,No.2020HXFH008 and No.ZYJC18003.
文摘BACKGROUND Pyogenic arthritis,pyoderma gangrenosum,and acne(PAPA)syndrome is a rare autosomal dominant genetic disease characterized by severe autoimmune inflammation,caused by mutations in the PSTPIP1 gene.Due to PAPA heterogeneous clinical manifestation,misdiagnosis or delayed diagnoses are difficult to avoid.With the use of whole-exome sequencing,we identified a missense mutation in the PSTPIP1 gene in a Chinese family.To the best of our knowledge,this is the first case of PAPA reported in China.CASE SUMMARY A 9-year-old boy suffered from recurrent aseptic pyogenic arthritis triggered by minor trauma or few obvious predisposing causes for more than 3 years.Pyogenic arthritis occurred every 3-5 mo,affecting his knees,elbows,and ankle joints.Treatments,such as glucocorticoids,antibiotics,even surgeries could alleviate joints pain and swelling to some extent but could not inhibit the recurrence of arthritis.Similar symptoms were present in his younger brother but not in his parents.According to the whole-exome sequencing,a missense mutation in exon 11 of the PSTPIP1 gene(c.748G>C;p.E250Q)was detected in the boy,his young-er brother and his father.Taking into account the similar phenotypic features with PAPA syndrome reported previously,we confirmed a diagnosis of PAPA syndrome for the family.CONCLUSION In this case,a missense mutation(c.748G>C;p.E250Q)in PSTPIP1 gene was identified in a Chinese family with PAPA syndrome.Previous studies emphasize the fact that PAPA syndrome is hard to diagnose just through the clinical manifestations owing to its heterogeneous expression.Genetic testing is an effectual auxiliary diagnostic method,especially in the early stages of pyogenic arthritis.Only if we have a deep understanding and rich experience of this rare disease can we make a prompt diagnosis,develop the best clinical treatment plan,and give good fertility guidance.
文摘目的:探究“针-药-模”结合治疗粉刺病肺胃热蕴证的临床效果。方法:收集2020年10月—2022年9月上海市嘉定区中医医院皮肤科门诊收治的粉刺病肺胃热蕴证患者150例,根据随机数字表法将其分为针-药-模治疗组(桑枇消痤颗粒+毫火针+石膏倒模)、针-药对照组(桑枇消痤颗粒+毫火针)、药-模对照组(桑枇消痤颗粒+石膏倒模),每组50例,均每周治疗1次,持续治疗4周。观察3组患者的临床疗效,比较3组治疗前后皮疹情况及生活质量[皮肤病生活质量指数量表(dermatology quality of life index,DLQI)],统计不良反应发生情况与复发率。结果:治疗4周后,针-药-模治疗组临床有效率高于针-药对照组、药-模对照组,差异有统计学意义;针-药对照组与药-模对照组比较,差异无统计学意义。3组患者皮疹情况评分、DLQI评分与治疗前比较均降低,且针-药-模治疗组低于针-药对照组及药-模对照组,差异有统计学意义;针-药对照组与药-模对照组比较,差异无统计学意义。治疗期间,3组患者不良反应发生情况比较,差异无统计学意义;结束治疗后2个月,针-药-模治疗组复发率低于针-药对照组、药-模对照组,差异有统计学意义;针-药对照组与药-模对照组比较,差异无统计学意义。结论:与“药-模”及“针-药”治疗相比,“针-药-模”相结合的综合治疗方法在粉刺病肺胃热蕴证的治疗中临床疗效更为显著,有效改善患者皮疹情况,提高生活质量,减少复发,安全性可靠。
