{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T23:27:13Z","timestamp":1782516433567,"version":"3.54.5"},"reference-count":6,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2023,7,26]],"date-time":"2023-07-26T00:00:00Z","timestamp":1690329600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,10,25]]},"abstract":"<jats:p>Haim\u2013Munk syndrome and Papillon\u2013Lef\u00e8vre syndrome are rare genodermatoses caused by mutations in CTSC, which encodes cathepsin C. Both syndromes cause palmoplantar keratoderma and are associated with periodontitis. We report a variant in CTSC that has previously been described in Papillon\u2013Lef\u00e8vre syndrome but has not previously been reported in Haim\u2013Munk syndrome. We suggest that Papillon\u2013Lef\u00e8vre syndrome and Haim\u2013Munk syndrome are a spectrum of diseases, caused by CTSC mutations, with significant overlap in their phenotypic features.<\/jats:p>","DOI":"10.1093\/ced\/llad241","type":"journal-article","created":{"date-parts":[[2023,7,26]],"date-time":"2023-07-26T11:33:30Z","timestamp":1690371210000},"page":"1298-1300","source":"Crossref","is-referenced-by-count":3,"title":["Cathepsin-C mutation in an individual with phenotypic features of Haim\u2013Munk syndrome: a case report"],"prefix":"10.1093","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7126-8384","authenticated-orcid":false,"given":"Rebecca L","family":"McCarthy","sequence":"first","affiliation":[{"name":"Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London , London , UK"},{"name":"Department of Dermatology, The Royal London Hospital , Barts Health NHS Trust, London , 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