{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T00:47:39Z","timestamp":1777942059119,"version":"3.51.4"},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T00:00:00Z","timestamp":1774915200000},"content-version":"vor","delay-in-days":30,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Special Care in Dentistry"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Cathepsin C (CTSC), a lysosomal cysteine protease, acts as a primary activator of several critical immune enzymes. Mutations in CTSC can cause a variety of conditions, primarily Papillon\u2010Lef\u00e8vre syndrome (PLS) and Haim\u2010Munk syndrome (HMS), both rare autosomal recessive palmoplantar keratoderma (PPK) diseases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Report<\/jats:title>\n                    <jats:p>We report the case of a 24\u2010year\u2010old female patient. Her past medical history revealed an undiagnosed condition associated with symptoms of thick, dry, and cracked skin. Additionally, she is of Myanmar heritage and has shared a family history of similar symptoms. The patient was referred to a dermatologist for further evaluation and genetic sequencing to confirm the diagnosis. Whole\u2010exome sequencing (WES) revealed two heterozygous compound variants in the CTSC gene.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>The report highlighted the clinical findings relevant to CTSC's genetic standpoint regarding the mutational indications of PLS and HMS. These diseases are allelic and share clinical features of PPK, including early\u2010onset periodontal deterioration and early tooth loss. These diseases are lifelong and management is usually palliative and quality\u2010focused.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The WES confirmed a likely\u00a0Haim\u2010Munk syndrome\u00a0diagnosis from compound heterozygous\u00a0CTSC\u00a0variants.\u00a0This aligns with severe\u00a0PPK\u00a0and\u00a0early tooth loss, underscoring the vital need for\u00a0genetic counseling\u00a0and further family testing. For dental practitioners, early identification of patients with suspected Papillon\u2010Lef\u00e8vre or Haim\u2010Munk syndrome is essential to enable timely genetic referral, appropriate prosthetic rehabilitation, and multidisciplinary management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/scd.70164","type":"journal-article","created":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T11:21:43Z","timestamp":1774956103000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Compound Heterozygous Cathepsin C Mutations Causing Phenotypical Papillion Lafevre\/Haim\u2010Munk Syndrome: A Case Report and Review of WES Findings"],"prefix":"10.1111","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1206-8224","authenticated-orcid":false,"given":"Motaz","family":"Assas","sequence":"first","affiliation":[{"name":"Department of Basic and Clinical Oral Sciences, College of Dentistry Umm Al\u2010Qura University  Makkah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-7144-4818","authenticated-orcid":false,"given":"Abdullah","family":"Hazzazi","sequence":"additional","affiliation":[{"name":"Department of Basic and Clinical Oral Sciences, College of Dentistry Umm Al\u2010Qura University  Makkah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-6242-4878","authenticated-orcid":false,"given":"Abdullah","family":"Alutaibi","sequence":"additional","affiliation":[{"name":"Department of Basic and Clinical Oral Sciences, College of Dentistry Umm Al\u2010Qura University  Makkah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-5633-0641","authenticated-orcid":false,"given":"Ameerah","family":"Aladwani","sequence":"additional","affiliation":[{"name":"Department of Basic and Clinical Oral Sciences, College of Dentistry Umm Al\u2010Qura University  Makkah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6041-8589","authenticated-orcid":false,"given":"Arwa U.","family":"Alsaggaf","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, College of Dentistry Umm Al\u2010Qura University  Makkah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8520-8721","authenticated-orcid":false,"given":"Bashayer","family":"Alshawi","sequence":"additional","affiliation":[{"name":"Department of Basic and Clinical Oral Sciences, College of Dentistry Umm Al\u2010Qura University  Makkah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3817-3938","authenticated-orcid":false,"given":"Hassan","family":"Abed","sequence":"additional","affiliation":[{"name":"Department of Basic and Clinical Oral Sciences, College of Dentistry Umm Al\u2010Qura University  Makkah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,3,31]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.5070\/D39419G7SV"},{"issue":"1","key":"e_1_2_11_3_1","first-page":"777","article-title":"Cathepsin C in Health and Disease: From Structural Insights to Therapeutic Prospects","volume":"22","author":"Chitsamankhun C.","year":"2024","journal-title":"Journal of Translational Medicine BioMed Central Limited"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.23.021704.115653"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation.V2000.1.303.303"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s42003-020-01407-0"},{"key":"e_1_2_11_7_1","first-page":"8627","article-title":"Dipeptidyl Peptidase I is Required for the Processing and Activation of Granzymes A and B in Vivo","volume":"96","author":"Pham C. 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