{"orpha":529,"name":"Roch-Leri mesosomatous lipomatosis","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-529/","orphanet_url":"https://www.orpha.net/en/disease/detail/529","names":{"fr":{"name":"Lipomatose mésosomatique de Roch-Leri","definition":"La lipomatose mésosomatique de Roch-Léri est un trouble rare et bénin de la prolifération du tissu lipidique, de transmission autosomique dominante. Elle se caractérise par la présence de nombreux petits lipomes de 2 à 5 cm de diamètre dans le tiers moyen du corps (les avant-bras, le tronc et le haut des cuisses) qui sont généralement indolores et peuvent être réséqués facilement sous anesthésie locale, s'ils ne sont pas trop nombreux ou confluents. Il n'y a pas eu de description dans la littérature depuis 1984."},"de":{"name":"Lipomatose, mesosomatische, Typ Roch-Leri","definition":"Die Mesosomatische Lipomatose Roch-Leri ist eine seltene, benigne, autosomal-dominant vererbte Störung der Proliferation des Fettgewebes. Kennzeichnend sind multiple kleine subkutane Lipome von 2-5 cm Durchmesser im mittleren Körperdrittel (Vorderarm, Stamm und Oberschenkel). Sie sind in der Regel schmerzfrei und können leicht unter Lokalanästhesie exzidiert werden, außer sie sind zu zahlreich oder konfluent. Seit 1984 wurden keine weiteren Fälle beschrieben."},"es":{"name":"Lipomatosis mesosomática de Roch-Leri","definition":"La lipomatosis mesosomática de Roch-Leri es una proliferación benigna y rara del tejido adiposo transmitida con un patrón autosómico dominante, caracterizada por la presencia de múltiples lipomas de pequeño tamaño, de 2 a 5 cm de diámetro, localizados en el tercio medio del cuerpo (antebrazos, tronco y muslos). Las lesiones son habitualmente indoloras y pueden eliminarse fácilmente bajo anestesia local, siempre que no sean confluentes o demasiado numerosas. Desde el año 1984 no se descrito ninguna caso adicional."},"it":{"name":"Lipomatosi mesosomatica di Roch-Leri","definition":"La lipomatosi mesosomatica di Roch-Leri è un malattia benigna rara autosomica dominante da proliferazione dei tessuti adiposi, caratterizzata dalla presenza di piccoli lipomi multipli di 2-5 cm di diametro nel terzo medio del corpo (avambracci, torace, e parte superiore della coscia), e che sono in genere indolori e possono essere facilmente rimossi in anestesia locale, a condizione che non siano troppo numerosi o confluenti. Non sono stati pubblicati nuovi casi dal 1984."},"nl":{"name":"Mesosomatische lipomatose, Roch-Leri-type","definition":"'Mesosomatische lipomatose, type Roch-Leri is een zeldzame, goedaardige, autosomaal dominante aandoening van de proliferatie van vetweefsel die wordt gekarakteriseerd door de aanwezigheid van meerdere kleine lipomen met een diameter tussen 2 en 5 cm in het middelste derde deel van het lichaam (i.e. de onderarmen, romp, en bovenste deel van de dijen); deze lipomen zijn doorgaans pijnloos en kunnen makkelijk verwijderd worden bij lokale verdoving, op voorwaarde dat ze niet te talrijk of samengevloeid zijn. Sinds 1984 zijn er geen verdere beschrijvingen in de literatuur.'"},"pt":{"name":"Lipomatose mesossomatosa de Roch-Leri"},"pl":{"name":"Lipomatoza Rocha i Leriego","definition":"Lipomatoza Rocha i Leriego jest rzadkim łagodnym autosomalnym dominującym zaburzeniem proliferacji tkanki tłuszczowej, charakteryzującym się obecnością wielu małych tłuszczaków o średnicy od 2 do 5 cm w środkowej trzeciej części ciała (tj. w obrębie przedramion, tułowia i ud), które są zazwyczaj bezbolesne i mogą być łatwo usunięte w znieczuleniu miejscowym, pod warunkiem, że nie są one zbyt liczne i zlewające. Nie było żadnych dalszych opisów w literaturze od 1984 roku."},"cs":{"name":"Rochova-Leriho mesozomatózní lipomatóza","synonyms":["Roch-Leriho mesozomatózní lipomatóza"]},"uk":{"name":"Мезосоматозний ліпоматоз Рох-Лері","definition":"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984."},"zh":{"name":"Roch-Leri体中部脂肪瘤样病"},"tr":{"name":"Roch-Leri mezozomatöz lipomatoz"}},"xrefs":[{"source":"ICD-10","code":"E88.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EF02.1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018884","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274284","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4733","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183484,"name":"Genetic subcutaneous tissue disorder","classifications":[156]},{"orpha":79382,"name":"Subcutaneous tissue disease","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["No data available"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"6540899[PMID]","terms":[{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very rare (<4-1%)","criteria":null}]}}