Department of Rheumatology and Clinical Immunology, Chinese Academy of Medical Sciences and Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science and Technology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital (PUMCH), Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Department of Rheumatology, Aerospace Center Hospital, Beijing, China.
Front Immunol. 2021 Oct 22;12:735851. doi: 10.3389/fimmu.2021.735851. eCollection 2021.
This study aims to describe the characteristics of patients diagnosed with pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome at a single center in China and provide an up-to-date literature review.
The clinical data and genotype of three Chinese Han patients were carefully documented and studied. We also conducted a systematic literature review on PAPA syndrome.
A total of three patients were diagnosed with PAPA syndrome at our center from 2018 to 2020. Arthritis was observed in all three patients, while pyoderma gangrenosum (PG) was found in two patients and acne in one patient. Other manifestations included pathergy reaction, intermittent fever, oral ulcer, keratitis, proteinuria, and hematuria. The A230T mutation was identified in two patients, and a novel Y119C variation was revealed in a sporadic patient. A total of 76 patients with PAPA syndrome reported in 29 articles were included in our literature review. The classical triad of arthritis, PG, and acne was visible in only 16 (25.4%) patients, while 24 (38.1%) exhibited only one major symptom. Skin lesions were more commonly seen in patients with adult-onset disease than those with childhood-onset disease (100 . 83%), whereas arthritis was less common (50 . 98.1%). Steroid and/or biological agents were effective in most patients.
The rarity and phenotypic heterogeneity associated with PAPA syndrome make the diagnosis a huge challenge to physicians, especially in adult patients. A significant portion of patients did not exhibit the full spectrum of the classical triad. Accordingly, gene testing is critically helpful for diagnosis.
本研究旨在描述中国某单一中心诊断为化脓性关节炎、坏疽性脓皮病和痤疮（PAPA）综合征患者的特征，并提供最新的文献综述。
仔细记录和研究了 3 例中国汉族患者的临床数据和基因型。我们还对 PAPA 综合征进行了系统的文献综述。
2018 年至 2020 年期间，我们中心共诊断出 3 例 PAPA 综合征患者。所有患者均存在关节炎，其中 2 例存在坏疽性脓皮病，1 例存在痤疮。其他表现包括创伤后反应、间歇性发热、口腔溃疡、角膜炎、蛋白尿和血尿。2 例患者存在 A230T 突变，散发性患者存在 Y119C 新型变异。我们的文献综述共纳入了 29 篇文章中报道的 76 例 PAPA 综合征患者。仅有 16 例（25.4%）患者表现为关节炎、坏疽性脓皮病和痤疮的经典三联征，而 24 例（38.1%）患者仅表现为单一主要症状。与儿童发病患者相比，成人发病患者的皮肤病变更为常见（100.83%比 50.98.1%），而关节炎则较少见。大多数患者对类固醇和/或生物制剂治疗有效。
PAPA 综合征的罕见性和表型异质性使得医生在诊断时面临巨大挑战，尤其是在成人患者中。很大一部分患者并未表现出经典三联征的全貌。因此，基因检测对诊断具有重要意义。
