Mayo Clinic ProceedingsA New Autosomal Dominant Disorder of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne: PAPA Syndrome
Section snippets
REPORT OF CASE
A 39-year-old man had a 20-year history of recurrent leg ulcerations. He described the occurrence of erythematous papules with occasional pustule formation, which broke down spontaneously and rapidly enlarged to form leg ulcers. Initially, these lesions were treated conservatively, and they healed during a period of months. In later years, the leg ulcers became more chronic, and at the time of the current examination, he had an ulcer on the left leg that had been present for 3½ years, waxing
METHODS
Clinical Evaluations.—Family members were assessed by review of medical records or history and physical examination. Family members who were 16 years of age or older were classified as definitely affected if they had two of three major findings: sterile pyogenic arthritis, pyoderma gangrenosum, or severe acne. Adults with one major finding were considered probably affected. Family members younger than 16 years of age were considered affected if sterile pyogenic arthritis was substantiated in
RESULTS
In addition to the proband, eight other family members had childhood onset of relapsing, sterile, intensely inflammatory, destructive, nonaxial arthritides, which occurred after minor joint trauma or without antecedent trauma (Table 1). Radiologic findings included periosteal proliferation of involved joints and, in some cases, ankylosis. Synovial fluid aspirations from various affected family members yielded seropurulent, purulent, cloudy, yellow, or frankly bloody specimens. Microorganisms
DISCUSSION
Herein we report a new autosomal dominant disorder—characterized by pyogenic (but aseptic) arthritis, pyoderma gangrenosum, and severe cystic acne—and suggest the acronym of PAPA syndrome. This syndrome is pleiotropic (affects more than one tissue) and is variably expressed (affected persons may manifest only some of the PAPA features). Typically, joint disease precedes the onset of skin disorders, which seem to develop during puberty. Affected persons may have sulfonamide-induced pancytopenia
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