PMC9154148_01
Early symptoms of this patient: (a) shows swollen left knee; (b) shows the suppuration and swelling of right ankle; (c) shows the suppuration and swelling of left ankle; (d and e) are the results of pathological examination after the incision and drainage of left knee in October 2013, which suggested that there were a large number of lymphocytes, plasma cells, and a small number of neutrophils and eosinophils in the joint fluid
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F1
Moreover, a large number of lymphocytes and plasma cells, as well as few neutrophils and eosinophils were found in the pathological examination [Figure 1].
(a and b) show the skin lesions in recovery period in 2015, among which A is knee and B is hip site; (c and d) show postoperative recovery period after ankle incision and drainage; (e and f) are the joint scar tissue period during follow-up in 2019; (g and h) are scar recovery period during follow-up in 2020
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F2
In June 2015, he was presented with skin pustules, mostly on the left lower extremity, waist, and right cheeks, accompanied by itching and suppuration [Supplement materials 1 and 2], and the topical glucocorticoid was effective [Figure 2a and b]. Afterwards, he was given cefotaxime and six times of free skin-flap successively [Figure 2c and d]. In March 2019, the anakinra was started to be used for 10 consecutive months, and no joint symptoms appeared after that [Figure 2e and f]. The follow-up is still underway [Figure 2g and h].
The genetic detection of this patient. (a) is the outcome of this genetic detection, which shows heterozygous mutations in PSTPIP1 gene: c.748G > A (p.E250K). (b) is the Genome Atlas
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F3
Given the patient's history of cutaneous lesions and articular involvement, the abnormal genetic testing, and the nomal serum levels of zinc and MRP8/14, the diagnosis of PAPA syndrome was made [Figure 3].
This figure contains a total of 23 columns and three rows of grids (23*3). Each column of grids represents the time point of each follow-up of the patient from September 2017 to August 2020 (or after the diagnosis was confirmed). The grids in the first row represent the joint symptoms at each follow-up, and the grids in the 2nd and 3rd rows (combination: 2nd + 3rd rows) represent the chemotherapy regimens at each follow-up. As shown in the figure, the dividing line between each of the two columns of grids corresponds to each time interval between the patient's two follow-up. The meaning of each color is also indicated clearly in the figure. The severity of symptoms at each follow-up and the time interval between each follow-up can indirectly reflect the effect of the previous chemotherapy regimens
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F4
As shown in Figure 4, from September 2017 to mid-January 2018, although he was given totally five times of tocilizumab (5 mg/kg) and three times of IVIG 10 g (400 mg/kg), the joint swelling still repeated, and the levels of IL-6, TNF-a, and IL-1, which were frequently monitored during this period, were still high.