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Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)--a new autoinflammatory syndrome distinct from PAPA syndrome.

Abstract

BACKGROUND

PAPA syndrome is a recently identified hereditary autoinflammatory syndrome clinically characterized by pyogenic arthritis, severe acne, and pyoderma gangrenosum. It is caused by mutations in the PSTPIP1 gene and may be closely linked to the aseptic abscesses syndrome, which has been shown to be associated with CCTG repeat amplification in the promoter region of PSTPIP1.

OBJECTIVE

We describe two unrelated patients with a clinical presentation quite similar to, yet distinct from, PAPA syndrome.

RESULTS

Both patients had pyoderma gangrenosum and acute or remittent acne conglobata, but, in contrast to PAPA syndrome, lacked any episodes of pyogenic arthritis. Instead, they had suppurative hidradenitis. Mutations in PSTPIP1 exons 1 to 15 were excluded. In the promoter region, an increased repetition of the CCTG microsatellite motif was present on one allele in both patients. Alterations of the most commonly affected exons of the MEFV, NLRP3, and TNFRSF1A genes also were not detectable. One patient was treated with the interleukin (IL)-1 receptor antagonist anakinra and responded well, although without complete remission. This implies that IL-1β may be of pathogenetic importance.

LIMITATIONS

Small number of patients, no gene mutation identified, and unclear efficacy of therapy are limitations.

CONCLUSIONS

The clinical triad of pyoderma gangrenosum, acne, and suppurative hidradenitis represents a new disease entity within the spectrum of autoinflammatory syndromes, similar to PAPA and aseptic abscesses syndrome. For this disease, we propose the acronym "PASH" syndrome. PASH syndrome may respond to IL-1β blockade.

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  • Authors+Show Affiliations

    ,

    Department of Dermatology and Allergy, Ludwig-Maximilian-University, Munich, Germany. braun-falco@med.uni-muenchen.de

    , ,

    Source

    MeSH

    Acne Vulgaris
    Adult
    Arthritis, Infectious
    Autoimmune Diseases
    Diagnosis, Differential
    Hidradenitis Suppurativa
    Humans
    Male
    Pyoderma Gangrenosum
    Syndrome

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    21745697

    Citation

    * When formatting your citation, note that all book, journal, and database titles should be italicized* Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)--a new autoinflammatory syndrome distinct from PAPA syndrome. AU - Braun-Falco,Markus, AU - Kovnerystyy,Oleksandr, AU - Lohse,Peter, AU - Ruzicka,Thomas, Y1 - 2011/07/13/ PY - 2010/09/29/received PY - 2010/12/20/revised PY - 2010/12/22/accepted PY - 2011/7/13/entrez PY - 2011/7/13/pubmed PY - 2012/4/11/medline SP - 409 EP - 15 JF - Journal of the American Academy of Dermatology JO - J. Am. Acad. Dermatol. VL - 66 IS - 3 N2 - BACKGROUND: PAPA syndrome is a recently identified hereditary autoinflammatory syndrome clinically characterized by pyogenic arthritis, severe acne, and pyoderma gangrenosum. It is caused by mutations in the PSTPIP1 gene and may be closely linked to the aseptic abscesses syndrome, which has been shown to be associated with CCTG repeat amplification in the promoter region of PSTPIP1. OBJECTIVE: We describe two unrelated patients with a clinical presentation quite similar to, yet distinct from, PAPA syndrome. RESULTS: Both patients had pyoderma gangrenosum and acute or remittent acne conglobata, but, in contrast to PAPA syndrome, lacked any episodes of pyogenic arthritis. Instead, they had suppurative hidradenitis. Mutations in PSTPIP1 exons 1 to 15 were excluded. In the promoter region, an increased repetition of the CCTG microsatellite motif was present on one allele in both patients. Alterations of the most commonly affected exons of the MEFV, NLRP3, and TNFRSF1A genes also were not detectable. One patient was treated with the interleukin (IL)-1 receptor antagonist anakinra and responded well, although without complete remission. This implies that IL-1β may be of pathogenetic importance. LIMITATIONS: Small number of patients, no gene mutation identified, and unclear efficacy of therapy are limitations. CONCLUSIONS: The clinical triad of pyoderma gangrenosum, acne, and suppurative hidradenitis represents a new disease entity within the spectrum of autoinflammatory syndromes, similar to PAPA and aseptic abscesses syndrome. For this disease, we propose the acronym "PASH" syndrome. PASH syndrome may respond to IL-1β blockade. SN - 1097-6787 UR - https://www.unboundmedicine.com/medline/citation/21745697/Pyoderma_gangrenosum_acne_and_suppurative_hidradenitis__PASH___a_new_autoinflammatory_syndrome_distinct_from_PAPA_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0190-9622(10)02265-6 DB - PRIME DP - Unbound Medicine ER -