{"orpha":90280,"name":"Chilblain lupus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90280/","orphanet_url":"https://www.orpha.net/en/disease/detail/90280","names":{"fr":{"name":"Lupus érythémateux type Chilblain","definition":"Lupus érythémateux cutané chronique rare, caractérisé par des papules et des plaques rouges ou violacées, initialement prurigineuses (devenant par la suite douloureuses), situées sur les zones acrales (en particulier les faces dorsales des doigts et des orteils, le nez et les oreilles étant rarement atteints) et exacerbées par le froid et l'humidité, occasionnellement accompagnées de fissures et de lésions ulcéreuses. Des lésions de lupus érythémateux discoïde affectant d'autres parties du corps et une évolution éventuelle vers un lupus érythémateux systémique sont une association possible. L'examen histologique et l'immunofluorescence directe révèlent des lésions non spécifiques du lupus érythémateux inflammatoire, tandis que la recherche des cryoglobulines et des agglutinines froides est négative."},"de":{"name":"Chilblain-Lupus","definition":"Eine seltener Subtyp des chronischen kutanen Lupus erythematodes, der durch rote oder violette, anfänglich juckende (später schmerzhafte) Papeln und Plaques gekennzeichnet ist, die sich an akralen Stellen befinden (insbesondere an den dorsalen Seiten von Fingern und Zehen, während die Nase und die Ohren nur selten betroffen sind). Die Symptome können sich durch Kälte und Feuchtigkeit verschlimmern, wobei gelegentlich Fissuren und Ulzerationen beobachtet werden. Die Koexistenz von Läsionen des diskoiden Lupus erythematodes an anderen Stellen des Körpers und die gelegentliche Progression zu einem systemischen Lupus erythematodes können assoziiert sein. Die histologische Untersuchung und direkte Immunfluoreszenzstudien zeigen unspezifische entzündliche Lupus erythematodes-Veränderungen, während die Ergebnisse von Kryoglobulin- und Kälteagglutinin-Untersuchungen negativ sind."},"es":{"name":"Lupus perniótico","synonyms":["Lupus sabañón"],"definition":"Es un tipo de lupus eritematoso cutáneo crónico y poco frecuente, caracterizado por pápulas y placas rojizas o violáceas, inicialmente pruriginosas (que evolucionan a dolorosas), localizadas en zonas acras (especialmente en el dorso de los dedos de manos y pies, mientras que la afectación nasal y ótica es infrecuente), exacerbadas por el frío y las condiciones húmedas y que, ocasionalmente, muestran fisuras y úlceras. La enfermedad puede estar asociada a la coexistencia de lesiones de lupus eritematoso discoide en otras partes del cuerpo y a la progresión ocasional a lupus eritematoso sistémico. El estudio histológico y los estudios de inmunofluorescencia directa muestran los cambios inflamatorios inespecíficos del lupus eritematoso, mientras que los resultados de los estudios de crioglobulinas y aglutininas frías son negativos."},"it":{"name":"Lupus gelone","definition":"Si tratta di un lupus eritematoso cutaneo cronico raro, caratterizzato da papule e placche rosse o violacee, inizialmente pruriginose (che successivamente diventano dolorose), localizzate sulle zone acrali (in particolare sul dorso delle dita delle mani e dei piedi, mentre è raro l'interessamento del naso e delle orecchie), aggravate dal freddo e dall'umidità, occasionalmente associate a fissurazione e ulcerazione. Può associarsi a lesioni discoidi da lupus eritematoso su altre zone del corpo; occasionalmente si osserva una progressione verso il lupus eritematoso sistemico. L'esame istologico e l'immunofluorescenza diretta evidenziano le alterazioni infiammatorie aspecifiche del lupus eritematoso, mentre il test della crioglobulina e delle agglutinine a freddo sono negativi."},"nl":{"name":"Chilblain lupus","definition":"Een zeldzame, chronische, cutane lupus erythematosus gekarakteriseerd door rode of violette, initieel pruritische (evoluerend naar pijnlijke) papels en plaques die zijn gesitueerd op acrale gebieden (vooral dorsale delen van vingers en tenen, terwijl betrokkenheid van neus en oren eerder ongewoon is) en die verergeren in koude en vochtige omstandigheden, en waarbij occasioneel vorming van kloven en ulceratie worden waargenomen. Samengaan met letsels van discoïde lupus erythematosus elders op het lichaam en occasioneel progressie naar systemische lupus erythematosus kunnen geassocieerd zijn. Histologisch onderzoek en studies met directe immunofluorescentie tonen niet-specifieke inflammatoire lupus erythematosus veranderingen, terwijl resultaten van studies van cryoglobuline en koude agglutinine negatief zijn."},"pt":{"name":"Lúpus pérnio"},"pl":{"name":"Toczeń odmrozinowy"},"cs":{"name":"Chilblain lupus"},"uk":{"name":"Холодовий вовчак","definition":"A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative."},"zh":{"name":"冻疮样狼疮"},"tr":{"name":"Chilblain 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":"1288185701"},{"source":"MONDO","code":"0019557","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535924","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551515","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]},{"orpha":183478,"name":"Genetic skin vascular disorder","classifications":[156]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"18543054[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18543054[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-05","source":"24285807[PMID]_18543054[PMID]","terms":[{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025131","label":"Finger swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025300","label":"Malar rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030899","label":"Pruritis on hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002923","label":"Rheumatoid factor positive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003613","label":"Antiphospholipid antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012325","label":"Chronic myelomonocytic leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007417","label":"Discoid lupus rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null}]}}