{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T12:50:24Z","timestamp":1792759824497,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,12,17]],"date-time":"2019-12-17T00:00:00Z","timestamp":1576540800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001349","name":"National Medical Research Council","doi-asserted-by":"publisher","award":["NMRC\/CG\/M003\/2017"],"award-info":[{"award-number":["NMRC\/CG\/M003\/2017"]}],"id":[{"id":"10.13039\/501100001349","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Haim\u2013Munk syndrome (HMS) and Papillon\u2013Lefevre syndrome (PLS) are phenotypic variants of palmoplantar keratoderma (PPK) with progressive early\u2010onset periodontitis and dental caries. HMS and PLS have been associated with homozygous or compound heterozygous mutations in the lysosomal protease gene Cathepsin C (<jats:italic>CTSC<\/jats:italic>). There have been only a few documented cases of <jats:italic>CTSC<\/jats:italic> mutations in patients from South\u2010East Asia. We report the clinical findings of two Cambodian brothers who presented with diffuse, demarcated PPK with transgrediens extending to the elbows and knees, as well as pachyonychia and dental caries. Arachnodactyly and periodontitis were also found in the older brother. Next\u2010generation sequencing unveiled a homozygous missense variant in <jats:italic>CTSC<\/jats:italic> (NM_001814.5: c.1337AC: p.(Asp446Ala)) in both brothers. Both parents were heterozygous for the variant, while an unaffected older brother was homozygous for the wild\u2010type allele. Our study adds to the spectrum of mutations and associated clinical presentations for this rare genodermatosis.<\/jats:p>","DOI":"10.1002\/ajmg.a.61447","type":"journal-article","created":{"date-parts":[[2019,12,17]],"date-time":"2019-12-17T15:42:15Z","timestamp":1576597335000},"page":"296-302","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Palmoplantar keratoderma, oral involvement, and homozygous <i>CTSC<\/i> mutation in two brothers from Cambodia"],"prefix":"10.1002","volume":"182","author":[{"given":"Heming","family":"Wei","sequence":"first","affiliation":[{"name":"Research Laboratory KK Women's &amp; Children's Hospital  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynette W. Y.","family":"Wee","sequence":"additional","affiliation":[{"name":"Dermatology Service KK Women's &amp; Children's Hospital  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bori","family":"Born","sequence":"additional","affiliation":[{"name":"Department of Dermatology Preah Kossamak Hospital  Phnom Penh Cambodia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sokheng","family":"Seang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Preah Kossamak Hospital  Phnom Penh Cambodia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4136-4105","authenticated-orcid":false,"given":"Mark J. 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