{"orpha":90283,"name":"Lupus erythematosus tumidus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Intermittent cutaneous lupus"],"definition":"A rare form of chronic cutaneous lupus erythematosus characterized by extreme photosensitivity with intermittent formation of erythematous, edematous, urticarial-like, smooth plaques on sun-exposed skin areas. The lesions heal without scarring. The course of the disease is benign, and development of systemic lupus erythematosus is infrequent. Most patients do not have lupus-related autoantibodies. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and increased dermal mucin deposition without involvement of the dermoepidermal junction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90283/","orphanet_url":"https://www.orpha.net/en/disease/detail/90283","names":{"fr":{"name":"Lupus tumidus","synonyms":["Lupus cutané intermittent"],"definition":"Forme rare de lupus érythémateux cutané chronique caractérisée par une photosensibilité extrême avec formation intermittente de plaques érythémateuses d'aspect lisse, oedémateuses, de type urticaire, sur les zones cutanées exposées au soleil. Les lésions guérissent sans laisser de cicatrices. L'évolution de la maladie est bénigne, et le développement d'un lupus érythémateux systémique est peu fréquent. La plupart des patients ne présentent pas d'auto-anticorps liés au lupus. La biopsie cutanée montre un infiltrat lymphocytaire périvasculaire et périannexiel et un dépôt accru de mucine dermique sans atteinte de la jonction dermo-épidermique."},"de":{"name":"Lupus erythematodes tumidus","synonyms":["Intermittierender kutaner Lupus"],"definition":"Eine seltene Form des chronischen kutanen Lupus erythematodes, die durch extreme Lichtempfindlichkeit mit intermittierender Bildung erythematöser, ödematöser, urtikariaähnlicher, glatter Plaques auf sonnenexponierten Hautbereichen gekennzeichnet ist. Die Läsionen heilen ohne Narbenbildung ab. Der Verlauf der Krankheit ist gutartig, und die Entwicklung eines systemischen Lupus erythematodes ist selten. Die meisten Patienten weisen keine lupusbedingten Autoantikörper auf. Die Hautbiopsie zeigt ein perivaskuläres und periadnexes lymphozytäres Infiltrat und vermehrte dermale Muzinablagerungen ohne Beteiligung der dermoepidermalen Grenzfläche."},"es":{"name":"Lupus eritematoso túmido","synonyms":["Lupus cutáneo intermitente","Lupus eritematoso tumidus"],"definition":"Es una forma poco frecuente de lupus eritematoso cutáneo crónico caracterizado por fotosensibilidad extrema con formación intermitente de placas lisas eritematosas, edematosas, urticariales, en las áreas de la piel expuestas al sol. Las lesiones cicatrizan sin dejar marcas. El curso de la enfermedad es benigno y la progresión a lupus eritematoso sistémico es poco frecuente. La mayoría de los pacientes no presentan autoanticuerpos relacionados con el lupus. La biopsia cutánea muestra infiltrado linfocítico perivascular y perianexial y un aumento de los depósitos dérmicos de mucina, sin afectación de la unión dermo-epidérmica."},"it":{"name":"Lupus eritematoso tumido","definition":"Si tratta di una forma rara di lupus eritematoso cutaneo cronico, caratterizzata da marcata fotosensibilità associata alla comparsa intermittente di placche lisce eritematose, edematose, simil-orticarioidi sulle aree della cute esposte al sole. Le lesioni guariscono senza lasciare cicatrici. Il decorso della malattia è benigno e raramente i pazienti sviluppano il lupus eritematoso sistemico. La maggior parte dei pazienti non presenta autoanticorpi correlati al lupus. La biopsia della cute evidenzia un infiltrato linfocitico perivascolare e periannessiale, e un aumento dei depositi di mucina nel derma, senza interessamento della giunzione dermo-epidermica."},"nl":{"name":"Lupus erythematosus tumidus","synonyms":["Intermitterende cutane lupus"],"definition":"Een zeldzame vorm van chronische cutane lupus erythematosus, gekarakteriseerd door extreme lichtgevoeligheid met intermitterende vorming van erythemateuze, oedemateuze, urticaria-achtige, gladde plaques op delen van huid die worden blootgesteld aan de zon. De laesies helen zonder littekenvorming. Het verloop van de ziekte is goedaardig, en ontwikkeling van systemische lupus erythematosus komt niet vaak voor. De meeste patiënten hebben geen auto-antilichamen gerelateerd aan lupus. Biopsie van huid toont een perivasculair en periadnexaal lymfocytisch infiltraat en verhoogde afzetting van mucine in huid, zonder betrokkenheid van de dermo-epidermale overgang."},"pt":{"name":"Lúpus eritematoso túmido"},"pl":{"name":"Odmiana obrzękowa skórnej postaci tocznia rumieniowatego","synonyms":["Intermittent cutaneous lupus"]},"cs":{"name":"Lupus erythematodes tumidus","synonyms":["Intermittent cutaneous lupus"]},"uk":{"name":"Червоний вівчак пухлинний","synonyms":["Інтермітуючий шкірний вовчак"],"definition":"A rare form of chronic cutaneous lupus erythematosus characterized by extreme photosensitivity with intermittent formation of erythematous, edematous, urticarial-like, smooth plaques on sun-exposed skin areas. The lesions heal without scarring. The course of the disease is benign, and development of systemic lupus erythematosus is infrequent. Most patients do not have lupus-related autoantibodies. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and increased dermal mucin deposition without involvement of the dermoepidermal junction."},"zh":{"name":"肿胀性红斑狼疮","synonyms":["间歇性皮肤狼疮"]},"tr":{"name":"Lupus eritematozus tumidus","synonyms":["Aralıklı kutanöz lupus"]}},"xrefs":[{"source":"ICD-10","code":"L93.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EB51.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"153320433"},{"source":"MONDO","code":"0019560","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406636","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13003","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":163531,"name":"Chronic cutaneous lupus erythematosus","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":250.0,"area":"Worldwide","status":"Validated","source":"21798482[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21798482[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-02-10","source":"33483145[PMID]_31632119[PMID]_25413356[PMID]","terms":[{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031191","label":"Deep dermal perivascular inflammatory infiltrate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025528","label":"Annular cutaneous lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032235","label":"Anti-La/SS-B antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030351","label":"Urticarial plaque","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020151","label":"Anti-dsDNA antibody positivity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007483","label":"Depigmentation/hyperpigmentation of skin","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Excluded (0%)","criteria":null}]}}