{"orpha":90156,"name":"Centrifugal lipodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Lipodystrophia centrifugalis abdominalis infantilis"],"definition":"Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90156/","orphanet_url":"https://www.orpha.net/en/disease/detail/90156","names":{"fr":{"name":"Lipodystrophie centrifuge","definition":"Une lipodystrophie héréditaire, rare et localisée, caractérisée par des dépressions cutanées lipoatrophiques hypopigmentées asymptomatiques ou parfois légèrement sensibles. Elles sont isolées ou parfois multiples, devenant progressivement centrifuges. Les bords sont inflammatoires et faiblement érythémateux, et les lésions sont habituellement associées à un gonflement des ganglions lymphatiques régionaux ipsilatéraux. Elles affectent généralement la partie inférieure du tronc (surtout l'aine et la région abdominale), suivie de la partie supérieure du tronc (régions axillaires et péri-axillaires), et dans de rares cas, le cou et la tête. La maladie n'est généralement pas associée à une maladie systémique et se résout habituellement de manière spontanée."},"de":{"name":"Lipodystrophie, zentrifugale","synonyms":["Lipodystrophia centrifugalis abdominalis infantilis"],"definition":"Die zentrifugale Lipodystrophie ist eine seltene, erworbene, lokalisierte Lipodystrophie, die durch einzelne oder gelegentlich multiple, zentrifugal fortschreitende, asymptomatische bis manchmal leicht schmerzhafte, hypopigmentierte, lipoatrophische Hautvertiefungen mit schwach erythematösen Entzündungsrändern gekennzeichnet ist, die typischerweise mit regionalen ipsilateralen Lymphknotenschwellungen einhergehen. Die Läsionen treten typischerweise am unteren Rumpf (insbesondere in der Leisten- und Bauchregion) auf, gefolgt vom oberen Rumpf (Axilla und angrenzende Regionen) und selten an Hals und Kopf. Sie ist in der Regel nicht mit einer systemischen Erkrankung assoziiert und bildet sich zumeist von selbst zurück."},"es":{"name":"Lipodistrofia centrífuga","synonyms":["Lipodistrofia centrífuga abdominal infantil","Lipodistrophia centrifugalis abdominalis infantilis"],"definition":"Es un tipo de lipodistrofia localizada, adquirida y poco frecuente que se caracteriza por depresiones cutáneas lipoatróficas únicas o, en ocasiones, múltiples, de progresión centrífuga, que varían desde asintomáticas a levemente dolorosas, hipopigmentadas y con bordes inflamatorios débilmente eritematosos, típicamente asociadas con la inflamación de los ganglios linfáticos ipsilaterales regionales. Las lesiones suelen aparecer en el tronco inferior (en particular en la región de la ingle y el abdomen), seguidas del tronco superior (axila y zonas próximas) y, ocasionalmente, en cabeza y cuello. Por lo general, no está asociado a enfermedad sistémica y se resuelve, habitualmente, de forma espontánea."},"it":{"name":"Lipodistrofia centrifuga","synonyms":["Lipodistrofia centrifuga addominale infantile"],"definition":"La lipodistrofia centrifuga è una lipodistrofia acquisita, localizzata, rara, caratterizzata da depressione cutanea (raramente le depressioni sono multiple) lipoatrofica, ipopigmentata, asintomatica o lievemente sensibile, che progredisce con modalità centrifuga, con bordi infiammati leggermente eritematosi. Di solito si associa all'ingrossamento monolaterale dei linfonodi locali. Le lesioni tendono a localizzarsi nella parte inferiore del tronco (soprattutto inguine e addome), e, seguire, nella parte superiore del tronco (ascelle e regioni circostanti) e, raramente, nel collo e nella testa. Di regola non si associa a malattie sistemiche e si risolve spontaneamente."},"nl":{"name":"Centrifugale lipodystrofie","synonyms":["Lipodystrophia centrifugalis abdominalis infantilis"],"definition":"Centrifugale lipodystrofie is een zeldzame, verworven, plaatselijke lipodystrofie, die wordt gekarakteriseerd door één of, occasioneel, meerdere, centrifugaal progressieve, asymptomatisch tot soms mild gevoelige, gehypopigmenteerde, lipoatrofische huiddepressies met licht erythemateuze inflammatoire randen, typisch geassocieerd met zwelling van regionale ipsilaterale lymfeklieren. Laesies komen doorgaans voor op de onderste delen van de romp (voornamelijk de lies- en buikregio), gevolgd door het bovenste deel van de romp (oksels en aangrenzende gebieden) en, zelden, de nek/hals en het hoofd. Het is meestal niet geassocieerd met systemische ziekte en gaat doorgaans vanzelf over."},"pt":{"name":"Lipodistrofia centrífuga"},"pl":{"name":"Lipodystrofia odśrodkowa","synonyms":["Lipodystrophia centrifugalis abdominalis infantilis"]},"cs":{"name":"Centrifugální lipodystrofie","synonyms":["Lipodystrophia centrifugalis abdominalis infantilis"]},"uk":{"name":"Відцентрова ліподистрофія","synonyms":["Відцентрова абдомінальна ліподистрофія немовлят"],"definition":"Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving."},"zh":{"name":"离心性脂肪代谢障碍","synonyms":["幼儿腹部离心性脂肪营养不良"]},"tr":{"name":"Santrifüjel lipodistrofi","synonyms":["Lipodistrofi sentrifugalis abdominalis infantilis"]}},"xrefs":[{"source":"ICD-10","code":"E88.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EF01.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1561732835"},{"source":"MONDO","code":"0019552","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406605","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79088,"name":"Localized lipodystrophy","classifications":[187,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"22211325[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":168.0,"area":"Worldwide","status":"Validated","source":"22211325[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-19","source":"7073970[PMID]_6691914[PMID]_8136542[PMID]_12080947[PMID]_17894715[PMID]_19712277[PMID]_20811202[PMID]","terms":[{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003758","label":"Reduced subcutaneous adipose tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007485","label":"Absence of subcutaneous fat","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002840","label":"Lymphadenitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005320","label":"Lack of facial subcutaneous fat","frequency":"Very rare (<4-1%)","criteria":null}]}}