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PAPA Syndrome

By

Apostolos Kontzias

, MD, Stony Brook University School of Medicine

Last full review/revision Jan 2022| Content last modified Jan 2022
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PAPA syndrome is caused by

  • Mutations in the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene on chromosome 15q

The mutated gene produces a hyperphosphorylated protein that binds excessively to pyrin, thus restricting pyrin’s anti-inflammatory activity, which possibly involves inhibiting neutrophil activation and chemotaxis by blocking activation of inflammasomes. PSTPIP1 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; 1 General reference 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 the proline-serine-threonine... read more General reference ).

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.

Treatment of PAPA syndrome with etanercept or anakinra (100 mg subcutaneously once a day) may be useful. Acne Treatment Acne vulgaris is the formation of comedones, papules, pustules, nodules, and/or cysts as a result of obstruction and inflammation of pilosebaceous units (hair follicles and their accompanying... read more Treatment is treated with oral tetracycline or isotretinoin.

General reference

  • 1. Boursier G, Piram M, Rittore C, et al: Phenotypic associations of PSTPIP1 sequence variants in PSTPIP1-associated autoinflammatory diseases. J Invest Dermatol 141(5):1141–1147, 2021. doi: 10.1016/j.jid.2020.08.028

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