PMC8569796_01
Clinical manifestations of patient 1. (A) Blisters and scars on lower limbs. (B) Healed pyoderma gangrenosum on the buttocks. (C) Hand deformity. (D) Corneal deformation could be observed on physical examination. (E) Pedigree of patient 1. Arrow, proband; black symbols, affected individuals; open symbols, unaffected individuals. (F) X-ray of hands showing osteoporosis, multiple joint space narrowing, hyperosteogeny, subluxation, and contracture.
fimmu-12-735851-g001.jpg
PMC8569796_01_fimmu-12-735851-g001.jpg
f1
After scratching, the blisters spilled and scabbed ( Figure 1A ). When she was over 30 years old, there was a large area of ulceration in the buttock, and then it healed ( Figure 1B ). At the age of 18, the patient developed polyarthritis which caused irreversible joint damage and deformity ( Figure 1C ). Corneal deformation was observed on physical examination ( Figure 1D ). She denied a family history of autoinflammatory diseases ( Figure 1E ). An X-ray of her hands showed osteoporosis, multiple joint space narrowing, hyperosteogeny, subluxation, and contracture ( Figure 1F ).
PMC8569796_02
Clinical manifestations of patient 2. (A) Arthritis of the right elbow. (B) Oral ulcer. (C) Acne. (D) Pathergy reaction. (E) Pedigree of patient 2. Arrow, proband; black symbols, affected individuals; open symbols; unaffected individuals.
fimmu-12-735851-g002.jpg
PMC8569796_02_fimmu-12-735851-g002.jpg
f2
Han woman who complained of recurrent arthritis for nearly 10 years. Her right wrist, bilateral knees, and right elbow were successively involved ( Figure 2A ), approximately once every 1 to 2 years. She also suffered from recurrent oral ulcers more than three times a year ( Figure 2B ), acne ( Figure 2C ), and poor wound healing. PG-related symptoms since then. Pathergy reaction had also been noticed in recent years when she underwent acupuncture ( Figure 2D ). The pedigree analysis ( Figure 2E ) revealed that her mother had recurrent arthritis and acne, and arthroscopy confirmed synovitis.
PMC8569796_03