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PAPA (pyogenic arthritis, pyoderma gangrenosum, and acne) syndrome is an autosomal dominant disorder that affects the skin and joints.

PAPA syndrome is caused by mutations in a gene on chromosome 15q. The mutated gene produces a hyperphosphorylated protein that binds excessively to pyrin, thus restricting pyrin's anti-inflammatory activity.

Arthritis begins in the first decade of life and is progressively destructive. Episodes of mild trauma may trigger the arthritis. Poorly healing ulcers with undermined edges may appear, often at sites of injury (eg, at vaccination sites). Acne is usually nodulocystic and, if untreated, causes scarring.

Diagnosis is based on clinical findings and a family history. The ulcers may be biopsied. Biopsy shows superficial ulceration and neutrophilic inflammation.

Treatment with etanercept Some Trade Names
ENBREL
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or anakinra Some Trade Names
KINERET
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may be useful. Acne is treated with oral tetracycline Some Trade Names
ACHROMYCIN V
TETRACYN
TETREX
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or isotretinoin Some Trade Names
ACCUTANE
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.

Last full review/revision January 2009 by Stephen E. Goldfinger, MD

Content last modified January 2009