{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T13:45:32Z","timestamp":1782740732269,"version":"3.54.5"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,2,13]],"date-time":"2021-02-13T00:00:00Z","timestamp":1613174400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Papillon\u2013Lef\u00e8vre syndrome (PLS) is a rare autosomal recessive genodermatosis characterized by palmoplantar keratoderma and severe periodontitis leading to premature loss of primary and permanent teeth. PLS is caused by loss\u2010of\u2010function mutations in <jats:italic>CTSC<\/jats:italic>, lacking functional cathepsin C, which impairs the activation of neutrophil serine proteases. Precise pathogenesis of periodontal damage is unknown. Patient 1 presented with well\u2010demarcated, transgredient, diffuse, palmoplantar keratoderma and psoriasiform lesions from the age of 2\u00a0years. Based on severe and recurrent periodontal inflammation, his dentist had diagnosed PLS at the age of 3\u00a0years and provided a strict oral hygiene regimen with repeated adjunct antibiotic therapies. Oral acitretin 10\u00a0mg\/day along with tretinoin ointment at the age of 9 greatly improved palmoplantar keratoderma. Aged 18\u00a0years, the patient exhibited an intact permanent dentition and absence of periodontal disease. Patient 2, a 30\u2010year\u2010old man, suffered from transgredient, diffuse, palmoplantar keratoderma with fissuring from the age of 2\u00a0months, marked psoriasiform plaques on elbows and knees, and nail dystrophy. Intriguingly, without specific dental treatment, teeth and dental records were unremarkable. He was referred with a suspected diagnosis of psoriasis. Both patients were otherwise healthy, blood tests and sonography of internal organs were within normal limits. Panel sequencing revealed loss\u2010of\u2010function mutations in <jats:italic>CTSC<\/jats:italic>, c.322A&gt;T (p.Lys108Ter) and c.504C&gt;G (p.Tyr168Ter) in patient 1 and homozygous c.415G&gt;T (p.Gly139Ter) in patient 2. The final diagnosis of unusual PLS was made. PLS should be considered in palmoplantar keratoderma lacking periodontitis or tooth loss.<\/jats:p>","DOI":"10.1111\/1346-8138.15720","type":"journal-article","created":{"date-parts":[[2021,2,14]],"date-time":"2021-02-14T17:15:16Z","timestamp":1613322916000},"page":"537-541","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Two patients with Papillon\u2013Lef\u00e8vre syndrome without periodontal involvement of the permanent dentition"],"prefix":"10.1111","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3183-2753","authenticated-orcid":false,"given":"Julian","family":"Umlauft","sequence":"first","affiliation":[{"name":"Department of Dermatology, Venereology and Allergy Medical University of Innsbruck Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Schnabl","sequence":"additional","affiliation":[{"name":"Department of Operative and Restorative Dentistry Medical University of Innsbruck Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Blunder","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergy Medical University of Innsbruck Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Verena","family":"Moosbrugger\u2010Martinz","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergy Medical University of Innsbruck Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ines","family":"Kapferer\u2010Seebacher","sequence":"additional","affiliation":[{"name":"Department of Operative and Restorative Dentistry Medical University of Innsbruck Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Zschocke","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Medical 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