Pyogenic arthritis,pyoderma gangrenosum,and acne syndrome in a Chinese family:A case report and review of literature  

作　　者：Ling-Yun Lu Xue-Yang Tang Guo-Jing Luo Meng-Jia Tang Yi Liu Xi-Jie Yu 

机构地区：[1]Department of Endocrinology,Laboratory of Endocrinology and Metabolism,West China Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China [2]Department of Integrated Traditional Chinese and Western Medicine,West China Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China [3]Department of Pediatric Surgery,West China Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China [4]Department of Endocrinology,Zhuhai People's Hospital,Zhuhai Hospital Affiliated with Jinan University,Zhuhai 519000,Guangdong Province,China [5]Department of Rheumatology and Immunology,Rare Disease Center,West China Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China

出　　处：《World Journal of Clinical Cases》2021年第22期6393-6402,共10页世界临床病例杂志

基　　金：Supported by the National Natural Science Foundation of China,No.81770875;the Post-Doctor Research Project,West China Hospital,Sichuan University,No.19HXBH053;the Health and Family Planning Commission of Sichuan Province,No.19PJ096;the 1.3.5 Project for Disciplines of Excellence,West China Hospital,Sichuan University,No.2020HXFH008 and No.ZYJC18003.

摘　　要：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.

关 键 词：Pyogenic arthritis pyoderma gangrenosum and acne syndrome PSTPIP1 Autoinflammatory disease Rare disease Case report 

分 类 号：R596.1[医药卫生—内科学]