{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T01:02:34Z","timestamp":1791162154610,"version":"4.1.0"},"reference-count":37,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2005,11,1]],"date-time":"2005-11-01T00:00:00Z","timestamp":1130803200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2005,11,1]],"date-time":"2005-11-01T00:00:00Z","timestamp":1130803200000},"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":[[2005,11]]},"DOI":"10.1016\/j.jaad.2005.02.033","type":"journal-article","created":{"date-parts":[[2005,10,18]],"date-time":"2005-10-18T07:21:02Z","timestamp":1129620062000},"page":"S234-S239","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":31,"special_numbering":"S","title":["Association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: A new syndrome"],"prefix":"10.1016","volume":"53","author":[{"given":"Giuseppe","family":"Micali","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rita","family":"Nasca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Innocenzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucretia A.","family":"Frasin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orietta","family":"Radi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Parma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Camerino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaad.2005.02.033_bib1","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1001\/archderm.1969.01610250013002","article-title":"Tylosis palmaris et plantaris. Its occurrence with internal malignancy","volume":"100","author":"Parnell","year":"1969","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib2","first-page":"413","article-title":"Carcinoma of the oesophagus with keratosis palmaris et plantaris (tylosis): a study of two families","volume":"27","author":"Howel-Evans","year":"1958","journal-title":"Q J Med"},{"key":"10.1016\/j.jaad.2005.02.033_bib3","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1046\/j.1365-4362.2003.01897.x","article-title":"Lung carcinoma with congenital plantar keratoderma as a variant of Clarke-Howel-Evans syndrome","volume":"42","author":"Grundmann","year":"2003","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib4","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1007\/s00439-004-1100-3","article-title":"Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene","volume":"114","author":"Langan","year":"2004","journal-title":"Hum Genet"},{"key":"10.1016\/j.jaad.2005.02.033_bib5","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1111\/j.1365-2133.1980.tb07662.x","article-title":"Genetic tylosis with malignancy: a study of a South Indian pedigree","volume":"102","author":"Yesudian","year":"1980","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib6","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1016\/S0190-9622(09)80087-X","article-title":"Verrucous carcinoma in Unna-Thost hyperkeratosis of the palms and soles","volume":"31","author":"Rogozinski","year":"1994","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib7","first-page":"205","article-title":"Wspolistnienie dwu zespolow paraneoplastycznych\u2013acrokeratosis Bazex oraz zespolu Lesera-Trelata\u2013w przypadku raka plaskonablonkowego krtani","volume":"70","author":"Rubisz-Brzezinska","year":"1983","journal-title":"Przeg Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib8","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1111\/j.1365-4362.1988.tb03214.x","article-title":"Cowden's disease: a marker of internal malignancy","volume":"27","author":"Shapiro","year":"1988","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib9","unstructured":"Online Mendelian Inheritancein Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, Md) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, Md), 2000. Available at: http:\/\/www.ncbi.nlm.nih.gov\/omim\/."},{"key":"10.1016\/j.jaad.2005.02.033_bib10","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1111\/j.1365-2133.1997.tb03776.x","article-title":"The inherited palmoplantar keratodermas","volume":"137","author":"Ratnavel","year":"1997","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib11","first-page":"135","article-title":"Genodermatose scl\u00e9ro-atrophiante et k\u00e9ratodermique des extr\u00e9mit\u00e9s","volume":"96","author":"Huriez","year":"1969","journal-title":"Ann Derm Syph"},{"key":"10.1016\/j.jaad.2005.02.033_bib12","first-page":"56","article-title":"K\u00e9ratodermie avec \u00e9pith\u00e9lioma au talon","volume":"39","author":"Nicolas","year":"1932","journal-title":"Bull Soc Fr Derm Syph"},{"key":"10.1016\/j.jaad.2005.02.033_bib13","first-page":"1079","article-title":"La g\u00e9nodermatose scl\u00e9ro-atrophiante et k\u00e9ratodermique des extr\u00e9mit\u00e9s (au sujet de trois nouveaux cas familiaux)","volume":"105","author":"Fisher","year":"1978","journal-title":"Ann Dermatol Venereol"},{"key":"10.1016\/j.jaad.2005.02.033_bib14","first-page":"654","article-title":"La g\u00e9nodermatose scl\u00e9ro-atrophiante et k\u00e9ratodermique des extr\u00e9mit\u00e9s","volume":"104","author":"Lambert","year":"1977","journal-title":"Ann Derm Venereol"},{"key":"10.1016\/j.jaad.2005.02.033_bib15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1365-2133.1994.tb08450.x","article-title":"The hereditary palmoplantar keratoses: an updated review and classification","volume":"131","author":"Lucker","year":"1994","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib16","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1111\/j.1600-0765.1997.tb01386.x","article-title":"Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis","volume":"32","author":"Hart","year":"1997","journal-title":"J Periodontol Res"},{"key":"10.1016\/j.jaad.2005.02.033_bib17","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1111\/j.1525-1470.1994.tb00105.x","article-title":"What syndrome is this? Papillon-Lefevre syndrome","volume":"11","author":"Micali","year":"1994","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib18","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1086\/302718","article-title":"A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23","volume":"66","author":"Lee","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaad.2005.02.033_bib19","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1034\/j.1600-0560.2001.028005271.x","article-title":"Olmsted syndrome","volume":"28","author":"Fonseca","year":"2001","journal-title":"J Cutan Pathol"},{"key":"10.1016\/j.jaad.2005.02.033_bib20","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1046\/j.1365-2133.2001.04453.x","article-title":"A further case of plantar squamous cell carcinoma arising in Olmsted syndrome","volume":"145","author":"Yoshizaki","year":"2001","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib21","first-page":"82","article-title":"Deux cas de keratodermie palmaris et plantaire symetrique familiale (Mal de Meleda) chez le frere et la soer. Coexistance dans le deux cas d'alterations dentaires graves","volume":"31","author":"Papillon","year":"1924","journal-title":"Soc Fr Dermatol Syph"},{"key":"10.1016\/j.jaad.2005.02.033_bib22","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1111\/j.1365-2133.1965.tb14565.x","article-title":"Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly and peculiar deformity of the terminal phalanges","volume":"77","author":"Haim","year":"1965","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib23","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1136\/jmg.37.2.88","article-title":"Haim-Munk syndrome and Papillon-Lef\u00e8vre syndrome are allelic mutations in cathepsin C","volume":"37","author":"Hart","year":"2000","journal-title":"J Med Genet"},{"key":"10.1016\/j.jaad.2005.02.033_bib24","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1007\/s004390050645","article-title":"Localisation of a gene for Papillon-Lef\u00e8vre syndrome to chromosome 11q14-q21 by homozygosity mapping","volume":"101","author":"Laass","year":"1997","journal-title":"Hum Genet"},{"key":"10.1016\/j.jaad.2005.02.033_bib25","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1046\/j.1523-1747.2001.01244.x","article-title":"Papillon-Lef\u00e8vre syndrome: mutations and polymorphisms in the cathepsin C gene","volume":"116","author":"Nakano","year":"2001","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib26","first-page":"25","article-title":"Papillomatose Form der palmo-plantaren Keratodermie kombiniert mit anderen Anomalien der Verhornung sowie dysplastichen Zahnveranderungen","volume":"26","author":"Jakac","year":"1975","journal-title":"Hautarzt"},{"key":"10.1016\/j.jaad.2005.02.033_bib27","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1001\/archderm.140.8.939","article-title":"Kindler syndrome in native Americans from Panama: report of 26 cases","volume":"140","author":"Penagos","year":"2004","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib28","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1046\/j.1365-2133.1996.41773.x","article-title":"The scleroatrophic syndrome of Huriez: a cancer-prone genodermatosis","volume":"134","author":"Hamm","year":"1996","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib29","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1046\/j.1365-2133.2000.03793.x","article-title":"Huriez syndrome: case report with detailed analysis of skin dendritic cells","volume":"143","author":"Guerriero","year":"2000","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaad.2005.02.033_bib30","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1034\/j.1399-0004.2000.570109.x","article-title":"An SRY-negative XX male with Huriez syndrome","volume":"37","author":"Vernole","year":"2000","journal-title":"Clin Genet"},{"key":"10.1016\/j.jaad.2005.02.033_bib31","series-title":"Birth defects encyclopedia","year":"1990"},{"key":"10.1016\/j.jaad.2005.02.033_bib32","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1007\/BF00208942","article-title":"Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination","volume":"84","author":"Ferguson-Smith","year":"1990","journal-title":"Hum Genet"},{"key":"10.1016\/j.jaad.2005.02.033_bib33","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1080\/014850100262308","article-title":"Localization of the sex-determining region-Y gene in XX males","volume":"44","author":"Suzuki","year":"2000","journal-title":"Arch Androl"},{"key":"10.1016\/j.jaad.2005.02.033_bib34","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1002\/(SICI)1521-1878(199809)20:9<696::AID-BIES2>3.0.CO;2-F","article-title":"Mammalian sex determination: joining pieces of the genetic puzzle","volume":"20","author":"Jemenez","year":"1998","journal-title":"Bioessay"},{"key":"10.1016\/j.jaad.2005.02.033_bib35","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1038\/82652","article-title":"A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse","volume":"26","author":"Bishop","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaad.2005.02.033_bib36","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/90046","article-title":"SOX9 induces testis development in XX transgenic mice","volume":"28","author":"Vidal","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaad.2005.02.033_bib37","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1093\/hmg\/ddh141","article-title":"Long-range activation of Sox9 in Odd Sex (Ods) mice","volume":"13","author":"Qin","year":"2004","journal-title":"Hum Mol Genet"}],"container-title":["Journal of the American Academy of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0190962205007152?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0190962205007152?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T21:38:26Z","timestamp":1759268306000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0190962205007152"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,11]]},"references-count":37,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,11]]}},"alternative-id":["S0190962205007152"],"URL":"https:\/\/doi.org\/10.1016\/j.jaad.2005.02.033","relation":{},"ISSN":["0190-9622"],"issn-type":[{"value":"0190-9622","type":"print"}],"subject":[],"published":{"date-parts":[[2005,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: A new syndrome","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.2005.02.033","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"}]}}