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©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome in a Chinese family: A case report and review of literature
Ling-Yun Lu, Xue-Yang Tang, Guo-Jing Luo, Meng-Jia Tang, Yi Liu, Xi-Jie Yu
Ling-Yun Lu, Meng-Jia Tang, Xi-Jie Yu, Department of Endocrinology, Laboratory of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Ling-Yun Lu, Department of Integrated Traditional Chinese and Western Medicine, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Xue-Yang Tang, Department of Pediatric Surgery, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Guo-Jing Luo, Department of Endocrinology, Zhuhai People's Hospital, Zhuhai Hospital Affiliated with Jinan University, Zhuhai 519000, Guangdong Province, China
Yi Liu, Department of Rheumatology and Immunology, Rare Disease Center, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Author contributions: Lu LY, Tang XY and Luo GJ reviewed the literature and analyzed the examinations; Lu LY and Tang XY contributed to manuscript drafting; Tang MJ was responsible for the patient follow-up; Yu XJ and Liu Y were responsible for the revision of the manuscript; all authors issued final approval for the version to be submitted.
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; and the 1.3.5 Project for Disciplines of Excellence, West China Hospital, Sichuan University, No. 2020HXFH008 and No. ZYJC18003.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
http://creativecommons.org/Licenses/by-nc/4.0/ Corresponding author: Xi-Jie Yu, MD, PhD, Professor, Department of Endocrinology, Laboratory of Endocrinology and Metabolism, West China Hospital, Sichuan University, No. 37 Guoxue Xiang, Chengdu 610041, Sichuan Province, China. xijieyu@hotmail.com
Received: January 20, 2021
Peer-review started: January 20, 2021
First decision: March 25, 2021
Revised: April 7, 2021
Accepted: May 8, 2021
Article in press: May 8, 2021
Published online: August 6, 2021
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 younger 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.
Core Tip: Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome (OMIM 604416) is a rare autosomal dominant genetic disease characterized by severe autoimmune inflammation. Herein, we reported a case of a Chinese boy diagnosed with PAPA syndrome due to an E250Q mutation in the PSTPIP1 gene and summarized the clinical characteristics, potential mechanisms, and relatively effective treatments from previous literature in order to provide some useful information for a comprehensive understanding of this rare disease.
