{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T00:27:27Z","timestamp":1775521647149,"version":"3.50.1"},"reference-count":32,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2005,3,1]],"date-time":"2005-03-01T00:00:00Z","timestamp":1109635200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2005,3,1]],"date-time":"2005-03-01T00:00:00Z","timestamp":1109635200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jaad.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the American Academy of Dermatology"],"published-print":{"date-parts":[[2005,3]]},"DOI":"10.1016\/j.jaad.2004.07.029","type":"journal-article","created":{"date-parts":[[2005,3,4]],"date-time":"2005-03-04T10:04:06Z","timestamp":1109930646000},"page":"403-409","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Focal palmoplantar and gingival keratosis: A distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins"],"prefix":"10.1016","volume":"52","author":[{"given":"Gerhard","family":"Kolde","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans Christian","family":"Hennies","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gudrun","family":"Bethke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter A.","family":"Reichart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaad.2004.07.029_bib1","first-page":"239","article-title":"Focal palmoplantar and marginal gingival hyperkeratosis: a syndrome","volume":"12","author":"Gorlin","year":"1976","journal-title":"Birth Defects"},{"key":"10.1016\/j.jaad.2004.07.029_bib2","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1001\/archinte.1964.00280120066012","article-title":"Keratosis palmaris et plantaris","volume":"113","author":"Fred","year":"1964","journal-title":"Arch Intern Med"},{"key":"10.1016\/j.jaad.2004.07.029_bib3","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0007-117X(73)90032-2","article-title":"Tylosis: a case report","volume":"11","author":"James","year":"1973","journal-title":"Br J Oral Surg"},{"key":"10.1016\/j.jaad.2004.07.029_bib4","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/0030-4220(80)90379-5","article-title":"Focal palmoplantar and oral mucosa hyperkeratosis syndrome: a report concerning five members of a family","volume":"50","author":"Laskaris","year":"1980","journal-title":"Oral Surg"},{"key":"10.1016\/j.jaad.2004.07.029_bib5","first-page":"118","article-title":"Hyperkeratosis of gingival and plantar surfaces","volume":"6","author":"Raphael","year":"1968","journal-title":"Periodontics"},{"key":"10.1016\/j.jaad.2004.07.029_bib6","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/0030-4220(82)90460-1","article-title":"Focal palmoplantar and gingival hyperkeratosis syndrome: report of a family, with cytologic, ultrastructural, and histochemical findings","volume":"53","author":"Young","year":"1982","journal-title":"Oral Surg"},{"key":"10.1016\/j.jaad.2004.07.029_bib7","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1001\/archderm.1970.04000090015003","article-title":"Histopathologic concept of epidermolytic hyperkeratosis","volume":"102","author":"Ackerman","year":"1970","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jaad.2004.07.029_bib8","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1001\/archderm.1966.01600260019002","article-title":"An electron microscopic study of epidermolytic hyperkeratosis","volume":"94","author":"Wilgram","year":"1966","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jaad.2004.07.029_bib9","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S1357-4310(98)01428-2","article-title":"The palmoplantar keratodermas: much more than palms and soles","volume":"5","author":"Kelsell","year":"1999","journal-title":"Mol Med Today"},{"key":"10.1016\/j.jaad.2004.07.029_bib10","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1067\/mjd.2002.124814","article-title":"The molecular basis of hereditary palmoplantar keratodermas","volume":"47","author":"Kimyai-Asadi","year":"2002","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jaad.2004.07.029_bib11","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1007\/BF00407741","article-title":"Ultrastructural morphometry of epidermal Langerhans cells: Introduction of a simple method for a comprehensive quantitative analysis of the cells","volume":"278","author":"Kolde","year":"1986","journal-title":"Arch Dermatol Res"},{"key":"10.1016\/j.jaad.2004.07.029_bib12","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/380152a0","article-title":"A comprehensive genetic map of the human genome based on 5,264 microsatellites","volume":"380","author":"Dib","year":"1996","journal-title":"Nature"},{"key":"10.1016\/j.jaad.2004.07.029_bib13","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/ng1294-319","article-title":"Tylosis oesophageal cancer mapped","volume":"8","author":"Risk","year":"1994","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaad.2004.07.029_bib14","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1006\/geno.1995.9971","article-title":"Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster","volume":"29","author":"Hennies","year":"1995","journal-title":"Genomics"},{"key":"10.1016\/j.jaad.2004.07.029_bib15","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1093\/hmg\/5.6.857","article-title":"Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC)","volume":"5","author":"Kelsell","year":"1996","journal-title":"Hum Molec Genet"},{"key":"10.1016\/j.jaad.2004.07.029_bib16","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1006\/geno.1999.5857","article-title":"Envoplakin, a possible candidate gene for focal NEPPK\/Esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25","volume":"59","author":"Risk","year":"1999","journal-title":"Genomics"},{"key":"10.1016\/j.jaad.2004.07.029_bib17","doi-asserted-by":"crossref","first-page":"6395","DOI":"10.1038\/sj.onc.1205768","article-title":"Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus","volume":"21","author":"Risk","year":"2002","journal-title":"Oncogene"},{"key":"10.1016\/j.jaad.2004.07.029_bib18","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop","year":"1984","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaad.2004.07.029_bib19","first-page":"1347","article-title":"Parametric and nonparametric linkage analysis: a unified multipoint approach","volume":"58","author":"Kruglyak","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaad.2004.07.029_bib20","series-title":"Jacobs Ikonographia Dermatologica","first-page":"29","article-title":"Pachyonychia congenita","author":"Jadassohn","year":"1906"},{"key":"10.1016\/j.jaad.2004.07.029_bib21","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1007\/BF00370821","article-title":"Pachyonychia congenita (Jadassohn-Lewandowsky syndrome)-evaluation of symptoms in 36 patients","volume":"285","author":"Kansky","year":"1993","journal-title":"Arch Dermatol Res"},{"key":"10.1016\/j.jaad.2004.07.029_bib22","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1007\/s001050050947","article-title":"Pachyonychia congenita. Keratingen-Mutationen mit pleiotroper Wirkung","volume":"50","author":"Swensson","year":"1999","journal-title":"Hautarzt"},{"key":"10.1016\/j.jaad.2004.07.029_bib23","first-page":"425","article-title":"Keratin staining and linkage of non-epidermolytic focal palmoplantar keratodermas (PPK) to 17q","volume":"131","author":"Stevens","year":"1994","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaad.2004.07.029_bib24","doi-asserted-by":"crossref","first-page":"1875","DOI":"10.1093\/hmg\/4.10.1875","article-title":"Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families","volume":"4","author":"Shamsher","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jaad.2004.07.029_bib25","first-page":"415","article-title":"Carcinoma of the oesophagus with keratosis palmaris et plantaris (tylosis). A study of 2 families","volume":"27","author":"Howel-Evans","year":"1958","journal-title":"Q J Med"},{"key":"10.1016\/j.jaad.2004.07.029_bib26","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1001\/archderm.1996.03890300056010","article-title":"Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas","volume":"132","author":"Stevens","year":"1996","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jaad.2004.07.029_bib27","series-title":"Skin Pathology","first-page":"281","article-title":"Disorders of epidermal maturation and keratinization","author":"Weedon","year":"2002"},{"key":"10.1016\/j.jaad.2004.07.029_bib28","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1038\/ng0294-174","article-title":"Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)","volume":"6","author":"Reis","year":"1994","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaad.2004.07.029_bib29","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1007\/BF00201564","article-title":"Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma","volume":"93","author":"Hennies","year":"1994","journal-title":"Hum Genet"},{"key":"10.1016\/j.jaad.2004.07.029_bib30","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/ng0795-363","article-title":"Mutation of a type II keratin gene (K6a) in pachyonychia congenita","volume":"10","author":"Bowden","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaad.2004.07.029_bib31","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/ng0395-273","article-title":"Keratin 16 and keratin 17 mutations cause pachyonychia congenita","volume":"9","author":"McLean","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaad.2004.07.029_bib32","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1046\/j.1365-2133.1999.03198.x","article-title":"Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1","volume":"141","author":"Smith","year":"1999","journal-title":"Br J Dermatol"}],"container-title":["Journal of the American Academy of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0190962204019395?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0190962204019395?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T21:36:58Z","timestamp":1759268218000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0190962204019395"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["S0190962204019395"],"URL":"https:\/\/doi.org\/10.1016\/j.jaad.2004.07.029","relation":{},"ISSN":["0190-9622"],"issn-type":[{"value":"0190-9622","type":"print"}],"subject":[],"published":{"date-parts":[[2005,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Focal palmoplantar and gingival keratosis: A distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins","name":"articletitle","label":"Article Title"},{"value":"Journal of the American Academy of Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaad.2004.07.029","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2005 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}