{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T05:02:09Z","timestamp":1784869329438,"version":"3.55.0"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T00:00:00Z","timestamp":1784851200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>Papillon\u2013Lef\u00e8vre syndrome is a rare inherited disorder classically associated with palmoplantar keratoderma and early severe periodontitis, but its clinical presentation may be broader than expected. We report four molecularly confirmed cases from two unrelated families carrying two different homozygous CTSC variants. The first index patient presented with a large iliopsoas abscess as the initial manifestation of the disease, while her monozygotic twin was diagnosed through family screening and had only mild skin and dental findings. In the second family, a 13-year-old boy had recurrent soft-tissue abscesses and palmoplantar lesions whose diagnosis was delayed for many years by a psoriasis-like presentation; his younger brother was later identified through cascade screening with a skin-limited phenotype. These cases show that PLS may present with deep infections, prolonged diagnostic delay, or mild unrecognized disease. Early molecular testing, careful dental and dermatological assessment, multifocal imaging, and systematic family screening are essential for timely diagnosis and appropriate care.<\/jats:p>","DOI":"10.3389\/fimmu.2026.1888482","type":"journal-article","created":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T04:24:38Z","timestamp":1784867078000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Papillon\u2013Lef\u00e8vre syndrome beyond keratoderma: two index presentations and sibling screening in two families"],"prefix":"10.3389","volume":"17","author":[{"given":"Hilal","family":"Karabag Citlak","sequence":"first","affiliation":[{"name":"Department of Pediatric Immunology and Allergy, Karadeniz Technical University Faculty of Medicine","place":["Trabzon, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatih Sultan Mehmet","family":"Koc","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Allergy, Karadeniz Technical University Faculty of Medicine","place":["Trabzon, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gulizar","family":"Demir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Allergy, Karadeniz Technical University Faculty of Medicine","place":["Trabzon, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gulben Ozgul","family":"Postuk","sequence":"additional","affiliation":[{"name":"Department of Pediatric Infectious Diseases, Karadeniz Technical University Faculty of Medicine","place":["Trabzon, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurdan","family":"Kayki Aksoy","sequence":"additional","affiliation":[{"name":"Department of Pediatric Infectious Diseases, Karadeniz Technical University Faculty of Medicine","place":["Trabzon, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oguzhan","family":"Demir","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine","place":["Trabzon, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayberk","family":"Turkyilmaz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine","place":["Trabzon, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alper Han","family":"Cebi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine","place":["Trabzon, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep Gokce","family":"Gayretli Aydin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Infectious Diseases, Karadeniz Technical University Faculty of Medicine","place":["Trabzon, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gul","family":"Salci","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Karadeniz Technical University Faculty of Medicine","place":["Trabzon, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nalan","family":"Yildiz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Allergy, Karadeniz Technical University Faculty of Medicine","place":["Trabzon, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fazil","family":"Orhan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Allergy, Karadeniz Technical University Faculty of Medicine","place":["Trabzon, 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