pediatrics
PAPA Syndrome
Introduction
PAPA (pyogenic arthritis, Pyoderma Gangrenosum , and PAPA syndrome is caused by Mutations in the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene on chromosome 15q variants have been identified in a broad spectrum of phenotypes such as PAPASH (pyoderma gangrenosum, acne, and suppurative hidradenitis with pyogenic arthritis ) and PASH (pyoderma gangrenosum, acne, and suppurative hidradenitis without pyogenic arthritis) ( General references ). 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. By puberty, arthritis tends to subside, and cutaneous symptoms predominate. Diagnosis of PAPA syndrome is based on clinical findings and a family history. The ulcers may be biopsied. Biopsy shows superficial ulceration and neutrophilic inflammation. Genetic testing for mutations in thePSTPIP1gene may support the diagnosis. may be useful ( General references ). 