{"orpha":199276,"name":"Familial multiple lipomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic subcutaneous tissue disease characterized by slow growth of numerous, painless, encapsulated lipomas located predominantly in the subcutaneous adipose tissue of the trunk and limbs, with relative sparing of the head, neck and shoulders. Clinical presentation mostly becomes evident in the third decade where a significant increase in size and number of lipomas is observed. At this stage they may cause discomfort and difficulty in performing daily physical tasks, otherwise they remain painless.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199276/","orphanet_url":"https://www.orpha.net/en/disease/detail/199276","names":{"fr":{"name":"Lipomatose multiple familiale","definition":"Maladie génétique rare du tissu sous-cutané caractérisée par une croissance lente de nombreux lipomes encapsulés et indolores, situés principalement dans le tissu adipeux sous-cutané du tronc et des membres, la tête, le cou et les épaules étant relativement épargnés. Le tableau clinique devient manifeste principalement au cours de la troisième décennie de vie, lorsqu'une augmentation significative de la taille et du nombre de lipomes est observée. À ce stade, ils peuvent provoquer une gêne et des difficultés dans l'accomplissement des tâches physiques quotidiennes, mais restent indolores."},"de":{"name":"Lipomatose, multiple, familiäre Form","definition":"Eine seltene genetisch bedingte Hautkrankheit, die durch ein langsames Wachstum zahlreicher, schmerzloser, abgekapselter Lipome gekennzeichnet ist, die sich vorwiegend im Unterhautfettgewebe des Rumpfes und der Gliedmaßen befinden, wobei Kopf, Nacken und Schultern relativ wenig betroffen sind. Das klinische Bild zeigt sich meist im dritten Lebensjahrzehnt, wenn eine deutliche Zunahme von Größe und Anzahl der Lipome zu beobachten ist. In diesem Stadium können sie Unbehagen und Schwierigkeiten bei der Ausführung alltäglicher körperlicher Aufgaben verursachen, ansonsten bleiben sie schmerzfrei."},"es":{"name":"Lipomatosis múltiple familiar","definition":"Es una enfermedad del tejido subcutáneo, de origen genético y poco frecuente, caracterizada por numerosos lipomas encapsulados e indoloros de crecimiento lento, ubicados predominantemente en el tejido adiposo subcutáneo del tronco y de las extremidades, y con menor frecuencia en la cabeza, el cuello y los hombros. La presentación clínica se hace evidente principalmente en la tercera década de la vida, en la que se observa un aumento significativo del tamaño y la cantidad de lipomas. En esta etapa, pueden causar molestias y dificultad para realizar las actividades físicas cotidianas; por lo demás, permanecen indoloros."},"it":{"name":"Lipomatosi multipla familiare","definition":"La lipomatosi multipla familiare è una malattia cutanea benigna rara, di origine genetica, caratterizzata dalla presenza di numerosi lipomi indolori incapsulati, localizzati nel tessuto adiposo sottocutaneo del tronco e degli arti, mentre il collo e le spalle sono relativamente risparmiati. Può associarsi a lipomatosi gastroduodenale, anomalie o lipomatosi cerebrali ed epilessia refrattaria."},"nl":{"name":"Familiale multipele lipomatose","synonyms":["Familiale meervoudige lipomatose"],"definition":"Een zeldzame genetische aandoening van onderhuids weefsel, gekenmerkt door trage groei van talrijke, pijnloze, ingekapselde lipomen gesitueerd in het onderhuids vetweefsel van de romp en de ledematen, terwijl het hoofd, de hals/nek en de schouders relatief gespaard blijven. De klinische presentatie wordt vooral duidelijk in het derde levensdecennium, wanneer er een significante toename wordt waargenomen van het aantal lipomen en van de omvang van de lipomen. In dit stadium kunnen de lipomen ongemak veroorzaken en het uitvoeren van dagdagelijkse taken bemoeilijken, ook al blijven ze voor het overige pijnloos."},"pt":{"name":"Lipomatose múltipla familiar"},"pl":{"name":"Rodzinna mnoga tłuszczakowatość","definition":"Rzadka genetyczna choroba tkanki podskórnej, charakteryzująca się powolnym wzrostem licznych, bezbolesnych, otorbionych tłuszczaków, umiejscowionych przede wszystkim w podskórnej tkance tłuszczowej tułowia i kończyn, przy relatywnym oszczędzaniu głowy, szyi i barków. Objawy kliniczne zazwyczaj ujawniają się w trzeciej dekadzie życia, kiedy obserwuje się znaczący wzrost liczby i rozmiaru tłuszczaków. Mogą one wówczas powodować dyskomfort oraz utrudniać wykonywanie codziennych czynności, niemniej w spoczynku pozostają bezbolesne."},"cs":{"name":"Familiární mnohočetná lipomatóza"},"uk":{"name":"Сімейний множинний ліпоматоз","definition":"Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported."},"zh":{"name":"家族性多发性脂肪瘤病","definition":"家族性多发性脂肪增多症是一种罕见的良性遗传性皮肤病，其特征是躯干和四肢皮下脂肪组织存在大量无痛包裹性脂肪瘤，颈部和肩部相对较少。该病与胃十二指肠脂肪增多症、脑发育异常或脑脂肪增多症以及难治性癫痫有关。"},"tr":{"name":"ailesel çoklu lipomatoz"}},"xrefs":[{"source":"OMIM","code":"151900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2E80.0Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"950217777"},{"source":"MONDO","code":"0007909","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000071070","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275273","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12925","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081235","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":[],"onset":["Adolescent","Adult","Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-02-05","source":"3745530[PMID]_39619307[PMID]_12516905[PMID]_17674589[PMID]_32021365[PMID]_31895524[PMID]","terms":[{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001031","label":"Subcutaneous lipoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006773","label":"Cutaneous angiolipomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007596","label":"Painful subcutaneous lipomas","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007618","label":"Subcutaneous calcification","frequency":"Very rare (<4-1%)","criteria":null}]}}