{"orpha":231040,"name":"Familial generalized lentiginosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial lentigines profusa","Familial multiple lentigines syndrome without systemic involvement"],"definition":"Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231040/","orphanet_url":"https://www.orpha.net/en/disease/detail/231040","names":{"fr":{"name":"Lentiginose généralisée familiale","synonyms":["Syndrome des lentigines multiples familial sans manifestation systémique"],"definition":"La lentiginose généralisée familiale est un trouble rare et héréditaire d'hyperpigmentation cutanée. Elle se caractérise par des lentigines disséminées, sans anomalie extra-cutanée associée. Les patients présentent de multiples macules planes de coloration brune à brun foncé, de 0,2 à 1 cm de diamètre, distribuées le long du corps. Les paumes ou les plantes des pieds sont parfois incluses, mais jamais la muqueuse buccale."},"de":{"name":"Lentiginosis, generalisierte, familiäre Form","synonyms":["Familiäres Multiple-Lentigines-Syndrom ohne systemische Beteiligung","Lentiginosis profusa, familiäre"],"definition":"Die familiäre generalisierte Lentiginose ist eine seltene, vererbte Hyperpigmentierungsstörung der Haut, die durch weit verbreitete Lentigines ohne assoziierte nicht-kutane Anomalien gekennzeichnet ist. Die Patienten weisen multiple braune bis dunkelbraune, nicht erhabene Makula von 0,2 bis 1 cm Durchmesser auf, die über den gesamten Körper verteilt sind, manchmal auch an den Handflächen oder Fußsohlen, aber nie an der Mundschleimhaut."},"es":{"name":"Lentiginosis generalizada familiar","synonyms":["Síndrome de lentígines múltiples familiar sin afectación sistémica"],"definition":"La lentiginosis generalizada familiar es un proceso hereditario poco frecuente de hiperpigmentación cutánea caracterizado por léntigos generalizados sin alteraciones extracutáneas asociadas. Los individuos afectos presentan múltiples máculas no elevadas de color pardo a marrón oscuro, de 0,2 a 1 cm de diámetro, localizadas en todo el cuerpo, incluyendo, en ocasiones, las palmas de las manos o plantas de los pies, pero siempre respetando la mucosa oral."},"it":{"name":"Lentigginosi generalizzata familiare","synonyms":["Lentiggini diffuse familiari","Sindrome delle lentiggini multiple familiari senza interessamento sistemico"],"definition":"La lentigginosi generalizzata familiare è una malattia rara ed ereditaria da iperpigmentazione della cute. È caratterizzata da lentiggini diffuse, in assenza di anomalie non cutanee. I pazienti presentano diverse macule non sporgenti, di colore marrone o marrone scuro, di diametro compreso tra 0,2 e 1 cm, diffuse su tutto il corpo, talvolta anche sul palmo delle mani e sulla pianta dei piedi, ma mai sulla mucosa orale."},"nl":{"name":"Familiale gegeneraliseerde lentiginose","synonyms":["Familiale lentigines profusa","Familiale meervoudige lentigines-syndroom zonder systemische betrokkenheid"],"definition":"Familiale gegeneraliseerde lentiginose is een zeldzame, overgeërfde hyperpigmentatie van de huid die wordt gekarakteriseerd door wijdverspreide lentigines zonder geassocieerde niet-cutane anomalieën. Patiënten vertonen meerdere bruine tot donkerbruine, niet verheven maculae met een diameter van 0,2 tot 1 cm, verspreid over het hele lichaam, soms ook met inbegrip van de handpalmen en voetzolen, maar nooit het wangslijmvlies."},"pt":{"name":"Lentiginose generalizada familiar"},"pl":{"name":"Rodzinne uogólnione plamy soczewicowate","synonyms":["Rodzinny zespół mnogich plam soczewicowatych"]},"cs":{"name":"Familiární generalizovaná lentiginóza","synonyms":["Familiární lentigines profusa","Familiární mnohočetný lentiginózní syndrom bez systémového postižení"]},"uk":{"name":"Сімейний генералізований лентигіноз","synonyms":["Сімейна lentigines profusa","Сімейний синдром множинної lentigines profusa без системного ураження"],"definition":"Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa."},"zh":{"name":"家族性泛发性雀斑样痣病","synonyms":["家族性泛发性雀斑样痣综合征不伴全身累及"],"definition":"家族性泛发性雀斑样痣病是一种罕见的遗传性皮肤色素沉着症，以广泛的皮疹为特征，不伴有非皮肤异常。患者表现为多发的棕色至深棕色，直径0.2至1厘米的非隆起性斑，遍布全身，有时包括手掌或脚底，但从未累及口腔粘膜。"},"tr":{"name":"Ailesel jeneralize lentijinoz","synonyms":["Ailesel lentigines profusa","Sistemik tutulum olmayan ailesel çoklu lentijin sendromu"]}},"xrefs":[{"source":"OMIM","code":"151001","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L81.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"364407231"},{"source":"MONDO","code":"0007891","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707357","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]}],"children":[],"genes":[{"symbol":"SASH1","name":"SAM and SH3 domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26203640[PMID]","hgnc":"19182","ensembl":"ENSG00000111961","omim":"607955","loci":["6q24.3-q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Unknown"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}