{"orpha":542592,"name":"Necrobiosis lipoidica","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Oppenheim-Urbach disease"],"definition":"A rare skin disease characterized by enlarging, annular plaques with red-brown edges and atrophic, yellow-brown, telangiectatic centers. The lesions are commonly asymptomatic, but affected skin areas may be fragile, and painful ulcerations develop in many cases. In rare cases, development of squamous cell carcinoma within longstanding lesions has been reported. The lower legs, especially the shins, are the most frequently involved site. The condition is often associated with diabetes mellitus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-542592/","orphanet_url":"https://www.orpha.net/en/disease/detail/542592","names":{"fr":{"name":"Nécrobiose lipoïdique","synonyms":["Dermatite atrophiante lipoïdique d'Oppenheim-Urbach","Maladie d'Oppenheim-Urbach"],"definition":"Maladie rare de la peau caractérisée par des plaques télangiectasiques étendues, disposées en palissade, aux contours de coloration rouge-brunâtre avec un centre atrophié de coloration jaune-brunâtre. Les lésions sont généralement asymptomatiques, mais les régions cutanées touchées peuvent être sensibles, et des ulcérations douloureuses se développent dans de nombreux cas. La dégénérescence en carcinome épidermoïde est exceptionnelle. La maladie siège le plus souvent dans la partie inférieure des jambes, en particulier au niveau des tibias. Elle est souvent associée au diabète sucré."},"de":{"name":"Necrobiosis lipoidica","synonyms":["Oppenheim-Urbach-Syndrom"],"definition":"Eine seltene Hauterkrankung, die durch vergrößerte, ringförmige Plaques mit rötlich-braunem Rand und atrophischen, gelblich-braunen, teleangiektatischen Zentren gekennzeichnet ist. Die Läsionen sind in der Regel asymptomatisch, die betroffenen Hautareale können jedoch brüchig sein, und in vielen Fällen entwickeln sich schmerzhafte Ulzerationen. In seltenen Fällen wurde über die Entwicklung von Plattenepithelkarzinomen in lang bestehenden Läsionen berichtet. Am häufigsten sind die Unterschenkel betroffen, insbesondere die Schienbeine. Die Erkrankung tritt häufig in Verbindung mit Diabetes mellitus auf."},"es":{"name":"Necrobiosis lipoídica","synonyms":["Enfermedad de Oppenheim-Urbach"],"definition":"Es una enfermedad cutánea poco frecuente caracterizada por unas placas anulares agrandadas con los bordes de color rojo-marrón y el centro telangiectásico atrófico de color amarillo-marrón. Las lesiones suelen ser asintomáticas, pero las zonas de piel afectadas pueden ser friables y, en muchos casos, se desarrollan ulceraciones dolorosas. En casos excepcionales, se ha descrito el desarrollo de un carcinoma de células escamosas a partir de lesiones de larga duración. La parte baja de las piernas, especialmente las espinillas, es el sitio más frecuentemente afectado. La entidad suele asociarse a la diabetes mellitus."},"it":{"name":"Necrobiosi lipoidica","definition":"Si tratta di una malattia rara della cute, caratterizzata da placche anulari espansive con margini rosso-bruno e un centro atrofico telangiectasico di colore giallo-marrone. Di solito le lesioni sono asintomatiche, ma le parti interessate della cute possono essere fragili e, spesso, presentano ulcere dolorose. Raramente, all'interno delle lesioni più vecchie, può svilupparsi un carcinoma a cellule squamose. La malattia interessa per lo più la porzione inferiore delle gambe, in particolare le tibie. Spesso la malattia si associa al diabete mellito."},"nl":{"name":"Necrobiosis lipoidica","synonyms":["Ziekte van Oppenheim-Urbach"],"definition":"Een zeldzame aandoening van huid, gekarakteriseerd door groeiende, ringvormige plaques met rood-bruine rand en atrofisch, geel-bruin, telangiëctatisch centrum. De laesies zijn doorgaans asymptomatisch, maar aangetaste delen van huid zijn mogelijk fragiel, en in vele gevallen ontwikkelen pijnlijke ulceraties. In zeldzame gevallen werd ontwikkeling van plaveiselcelcarcinoom met langdurige laesies gerapporteerd. Onderbenen, en vooral schenen, worden het vaakst aangetast. De aandoening is vaak geassocieerd met diabetes mellitus."},"pt":{"name":"Necrobiose lipóidica"},"pl":{"name":"Obumieranie tłuszczowate","synonyms":["Oppenheim-Urbach disease"]},"cs":{"name":"Necrobiosis lipoidica","synonyms":["Oppenheimova-Urbachova nemoc","Oppenheim-Urbachova nemoc"]},"uk":{"name":"Ліпоїдний некробіоз","synonyms":["Хвороба Оппенгейма-Урбаха"],"definition":"A rare skin disease characterized by enlarging, annular plaques with red-brown edges and atrophic, yellow-brown, telangiectatic centers. The lesions are commonly asymptomatic, but affected skin areas may be fragile, and painful ulcerations develop in many cases. In rare cases, development of squamous cell carcinoma within longstanding lesions has been reported. The lower legs, especially the shins, are the most frequently involved site. The condition is often associated with diabetes mellitus."},"zh":{"name":"类脂性渐进性坏死","synonyms":["Oppenheim-Urbach疾病"]},"tr":{"name":"Nekrobiosis lipoidika","synonyms":["Oppenheim-Urbach hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"L92.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EE80.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"655608138"},{"source":"MONDO","code":"0006583","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009335","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0027538","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13040","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79381,"name":"Other dermis disorder","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29184811[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-03","source":"32023016[PMID]_27686584[PMID]_26143418[PMID]_31719288[PMID]_29352388[PMID]","terms":[{"hpo":"HP:0025528","label":"Annular cutaneous lesion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011990","label":"Abnormality of neutrophil physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032252","label":"Granuloma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032217","label":"Indurated nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002973","label":"Abnormality of the forearm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001965","label":"Abnormality of the scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}