Case Report: Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne: A Single-Center Experience and Literature Review

Abstract

ObjectivesThis 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.MethodsThe clinical data and genotype of three Chinese Han patients were carefully documented and studied. We also conducted a systematic literature review on PAPA syndrome.ResultsA 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 PSTPIP1 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 vs. 83%), whereas arthritis was less common (50 vs. 98.1%). Steroid and/or biological agents were effective in most patients.ConclusionsThe 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.

Renal involvement as a potential feature of pyogenic arthritis, pyoderma gangrenosum, and acne syndrome with E250K mutation of PSTPIP1 gene

“…We present the seventh published case of PAPA syndrome secondary to the E250K mutation. 2 Notably, our patient was not formally diagnosed until adulthood and exhibited findings to suggest that renal disease may represent a clinical manifestation of the E250K mutation variant.…”

“… 1 However, in a recent review of the literature, only 16 of 63 patients (25.4%) exhibited the classically reported triad, and 24 of 63 patients (38.1%) demonstrated only one major disease finding. 2 Cutaneous lesions of PG and acne in this syndrome both clinically and histopathologically often resemble their classic standalone forms, further complicating the diagnosis. 3 …”

Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review

“…A total of 76 patients with PAPA syndrome reported in 29 articles were included in Wang’s literature review [ 41 ]. 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% vs 83%), whereas arthritis was less common (50% vs. 98.1%). Steroid and/or biological agents were effective in most patients [ 41 ].…”

“…Joint effusions may also be surgically managed by means of drainage and/or intra-articular corticosteroid injections. Topical and systemic retinoids have been shown to be effective in the management of the most severe forms of acne [ 41 ].…”