Clinical and genetic analyses in a patient with PAPA syndrome complicated with inflammatory bowel disease
نویسندگان
چکیده
Patients and methods We herein report a 23-year-old Japanese male who suffered from recurrent arthritis in his knee and ankle joints, pyoderma gangrenosum, and acne. Recently, he had experienced melena and multiple colonic ulcers had been detected by colonfiberscopy. His ulcerations resembled ulcers associated with Crohn’s disease. A histological examination was then performed for the synovium of this knee joints, skin lesions of pyoderma gangrenosum, and the colon. The genomic DNA of PSTPIP1 were analysed in both the patient and his family.
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