{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T05:02:30Z","timestamp":1790917350471,"version":"4.1.0"},"reference-count":15,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatology"],"published-print":{"date-parts":[[2008]]},"abstract":"<jats:p>Papillon-Lef\u00e8vre syndrome (PLS) is a rare autosomal-recessive genodermatosis characterized by palmoplantar hyperkeratosis and severe early-onset periodontitis. The development of malignant cutaneous neoplasms within the hyperkeratotic lesions of the syndrome is quite rare. Here, we report on a 51-year-old Japanese woman with PLS associated with recurrent malignant melanoma (MM). Mutation analysis of the cathepsin C gene revealed that the proband was homozygous for a missense mutation, c.415G\u2192A, which is predicted to result in the amino acid substitution p.G139R. Including our case, 4 families have been described as having PLS with MM, 3 of which are Japanese, implying a high incidence of melanoma development in Japanese PLS patients. We suggest that hereditary palmoplantar keratoderma (PPK) in Japanese patients might be predisposed to MM. A literature review revealed that in 18 cases of MM-associated PPK, 13 (76%) were Japanese, suggesting a high incidence of MM in Japanese PPK patients. This tendency might be attributable to the high frequency of acral lentiginous melanoma in Japanese subjects, in contrast to a lower frequency of this subtype in Caucasians.<\/jats:p>","DOI":"10.1159\/000124340","type":"journal-article","created":{"date-parts":[[2008,4,10]],"date-time":"2008-04-10T08:37:20Z","timestamp":1207816640000},"page":"58-62","source":"Crossref","is-referenced-by-count":38,"title":["Papillon-Lef\u00e8vre Syndrome and Malignant Melanoma"],"prefix":"10.1159","volume":"217","author":[{"given":"Koji","family":"Nakajima","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajime","family":"Nakano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Takiyoshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiko","family":"Rokunohe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satsuki","family":"Ikenaga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Aizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahide","family":"Kaneko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihiko","family":"Mitsuhashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Sawamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2008,4,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-4362.1979.tb04493.x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016%2FS0022-3476%2864%2980014-7"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.272.15.10260"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00278288"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1001%2Farchderm.118.1.2b"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1747.2001.01244.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.9040"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002%2Fjso.10317"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10227-002-0107-4"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1524-4725.2004.30564.x"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007%2FPL00012091"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2133.2006.07368.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2133.2001.04453.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2133.1995.tb02669.x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1126\/science.8392749"}],"container-title":["Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/124340","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/124340","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T01:48:17Z","timestamp":1745459297000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000124340"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2008,6,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000124340","archive":["Portico"],"relation":{},"ISSN":["1018-8665","1421-9832"],"issn-type":[{"value":"1018-8665","type":"print"},{"value":"1421-9832","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008]]}}}