{"id":"https://openalex.org/W22105191","doi":null,"title":"Xeroderma pigmentoso: comunicaci\u00f3n de un caso","display_name":"Xeroderma pigmentoso: comunicaci\u00f3n de un caso","publication_year":2013,"publication_date":"2013-08-12","ids":{"openalex":"https://openalex.org/W22105191","mag":"22105191"},"language":"es","primary_location":{"id":"pmh:oai:dermatolarg.org.ar:article/1011","doi":null,"is_oa":false,"landing_page_url":"https://www.dermatolarg.org.ar/index.php/index/article/view/1011","pdf_url":null,"source":{"id":"https://openalex.org/S4210229849","display_name":"Dermatolog\u00eda Argentina","issn_l":"1515-8411","issn":["1515-8411","1669-1636"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["erih-plus","latindex","nbra"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"1515-8411","raw_type":"info:eu-repo/semantics/article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Mar\u00eda Serra","orcid":"https://orcid.org/0000-0003-2255-4699","observed_orcids":["https://orcid.org/0000-0003-2255-4699"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mar\u00eda Serra","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-2255-4699","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056950703","display_name":"Tamara Fedra Limanski","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tamara Fedra Limanski","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066889888","display_name":"Mar\u00eda Cristina Corbella","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mar\u00eda Cristina Corbella","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5010213061","display_name":"Margarita Larralde","orcid":"https://orcid.org/0000-0002-3801-194X","observed_orcids":["https://orcid.org/0000-0002-3801-194X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Margarita Larralde","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.00285625,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"19","issue":"2","first_page":"133","last_page":"135"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.8794000148773193,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.8794000148773193,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.1054999977350235,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0044999998062849045,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/xeroderma-pigmentosum","display_name":"xeroderma pigmentosum","score":1.0},{"id":"https://openalex.org/keywords/dna-repair-deficiency","display_name":"DNA repair deficiency","score":0.8379999995231628},{"id":"https://openalex.org/keywords/autosomal-recessive-disorder","display_name":"autosomal recessive disorder","score":0.8100000023841858},{"id":"https://openalex.org/keywords/photosensitivity","display_name":"photosensitivity","score":0.824999988079071},{"id":"https://openalex.org/keywords/sunburn","display_name":"sunburn","score":0.6179999709129333},{"id":"https://openalex.org/keywords/skin-color-change","display_name":"skin color change","score":0.6779999732971191},{"id":"https://openalex.org/keywords/skin-cancer","display_name":"skin cancer","score":0.6240000128746033},{"id":"https://openalex.org/keywords/ocular-manifestations","display_name":"ocular manifestations","score":0.9340000152587891},{"id":"https://openalex.org/keywords/sun-protection","display_name":"sun protection","score":0.6079999804496765},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.6819999814033508}],"concepts":[{"id":"https://openalex.org/C2778378917","wikidata":"https://www.wikidata.org/wiki/Q612693","display_name":"Xeroderma pigmentosum","level":4,"score":0.9580280780792236},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6016883850097656},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.42087432742118835},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.3738204836845398},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1926078498363495},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1294739842414856},{"id":"https://openalex.org/C134935766","wikidata":"https://www.wikidata.org/wiki/Q210538","display_name":"DNA repair","level":3,"score":0.11602768301963806},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.05504760146141052}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:dermatolarg.org.ar:article/1011","doi":null,"is_oa":false,"landing_page_url":"https://www.dermatolarg.org.ar/index.php/index/article/view/1011","pdf_url":null,"source":{"id":"https://openalex.org/S4210229849","display_name":"Dermatolog\u00eda Argentina","issn_l":"1515-8411","issn":["1515-8411","1669-1636"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["erih-plus","latindex","nbra"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"1515-8411","raw_type":"info:eu-repo/semantics/article"},{"id":"mag:22105191","doi":null,"is_oa":false,"landing_page_url":"https://www.dermatolarg.org.ar/index.php/dermatolarg/article/download/1011/618","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Dermatolog\u00eda Argentina","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":6,"referenced_works":["https://openalex.org/W1758000519","https://openalex.org/W2037435562","https://openalex.org/W2052163822","https://openalex.org/W2082139407","https://openalex.org/W2085149503","https://openalex.org/W2160238928"],"related_works":["https://openalex.org/W1493106033","https://openalex.org/W2341798993","https://openalex.org/W4205731236","https://openalex.org/W4312217767","https://openalex.org/W4251986128","https://openalex.org/W2737823019","https://openalex.org/W4299516711","https://openalex.org/W41400522","https://openalex.org/W4414138971","https://openalex.org/W2590947948"],"abstract_inverted_index":{"El":[0,57,68],"xeroderma":[1,104,134,208],"pigmentoso":[2],"(XP)":[3,112],"es":[4,59],"una":[5,30,41,72],"rara":[6],"enfermedad,":[7],"autos\u00f3mica":[8],"recesiva,":[9],"causada":[10],"por":[11],"un":[12,84],"defecto":[13],"en":[14,21,71],"la":[15,22,76],"reparaci\u00f3n":[16,106],"del":[17,107],"ADN.":[18],"Se":[19],"manifiesta":[20],"ni\u00f1ez":[23],"temprana.":[24],"Los":[25],"pacientes":[26,52],"con":[27,65,91],"XP":[28],"tienen":[29],"extrema":[31],"fotosensibilidad,":[32],"lo":[33],"que":[34],"conduce":[35],"a":[36,114,121,178,189,192],"quemaduras":[37],"solares,":[38],"cambiospigmentarios":[39],"y":[40,61,75,94],"elevada":[42],"incidencia":[43],"de":[44,47,51,78,83,86,89],"tumores":[45],"malignos":[46],"piel.":[48],"Una":[49],"minor\u00eda":[50],"presenta":[53],"anomal\u00edas":[54],"neurol\u00f3gicas":[55],"progresivas.":[56],"diagn\u00f3stico":[58],"cl\u00ednico":[60],"puede":[62],"ser":[63],"confirmado":[64],"estudios":[66],"gen\u00e9ticos.":[67],"tratamiento":[69],"consiste":[70],"rigurosa":[73],"fotoprotecci\u00f3n":[74],"extirpaci\u00f3nprecoz":[77],"lesiones":[79],"precancerosas.Presentamos":[80],"el":[81],"caso":[82],"ni\u00f1o":[85],"2":[87],"a\u00f1os":[88],"edad":[90],"compromiso":[92],"cut\u00e1neo":[93],"ocular,":[95],"sin":[96],"alteraciones":[97],"neurol\u00f3gicas(Dermatol.":[98],"Argent.,":[99,204],"2013,":[100,205],"19(2):":[101,206],"133-135).Palabras":[102],"clave:":[103],"pigmentoso,":[105],"ADN,":[108],"enfermedades":[109],"gen\u00e9ticas.AbstractXeroderma":[110],"pigmentosum":[111,135],"is":[113,162],"rare,":[115],"autosomal":[116],"recessive":[117],"disease":[118,127],"caused":[119],"by":[120],"defect":[122],"in":[123,129,142,177],"DNA":[124,210],"repair.":[125],"This":[126],"manifests":[128],"early":[130,183],"childhood.":[131],"Patients":[132],"with":[133,197],"have":[136],"extreme":[137],"sensitivity":[138],"to":[139],"sunlight,":[140],"resulting":[141],"sunburn,":[143],"pigmentary":[144],"skin":[145,151,198],"changes":[146],"and":[147,182,199],"high":[148],"incidence":[149],"of":[150,155,172,185,191],"cancers.":[152],"A":[153],"minority":[154],"patients":[156],"show":[157],"progressive":[158],"neurological":[159],"abnormalities.":[160],"Diagnosis":[161],"made":[163],"clinically.":[164],"Genetic":[165],"testing":[166],"may":[167],"be":[168],"available":[169],"for":[170],"confirmation":[171],"diagnosis.":[173],"The":[174],"treatment":[175],"consists":[176],"rigorous":[179],"sun":[180],"protection":[181],"removal":[184],"pre-cancerous":[186],"lesions.We":[187],"present":[188],"case":[190],"two":[193],"years":[194],"old":[195],"boy":[196],"ocular":[200],"involvement,":[201],"without":[202],"neurologicalabnormalities(Dermatol.":[203],"133-135).Keywords:":[207],"pigmentosum,":[209],"repair;":[211],"genetic":[212],"disease.":[213]},"counts_by_year":[],"updated_date":"2026-10-03T13:16:28.481748","created_date":"2016-06-24T00:00:00"}
