{"orpha":398124,"name":"Neonatal lupus erythematosus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare systemic autoimmune disease characterized by cutaneous lesions, hepatic dysfunction, hematological abnormalities, and/or cardiac arrhythmia, and caused by transplacental passage of maternal SS-A and SS-B autoantibodies. The most typical cutaneous manifestation is a macular annular erythema affecting the head, but also trunk and extremities. Other reversible features include anemia, neutropenia, thrombocytopenia, and elevation of liver parameters with hepatomegaly. The most severe presentation of the disease is irreversible congenital total atrioventricular block.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-398124/","orphanet_url":"https://www.orpha.net/en/disease/detail/398124","names":{"fr":{"name":"Lupus érythémateux néonatal","definition":"Maladie systémique auto-immune rare caractérisée par des lésions cutanées, une insuffisance hépatique, des anomalies hématologiques et/ou une arythmie cardiaque. Elle est causée par le passage transplacentaire d'auto-anticorps anti-SS-A/SS-B maternels. La manifestation cutanée la plus typique est un érythème orbitaire et annulaire touchant la tête, mais aussi le tronc et les membres. Les autres signes cliniques réversibles sont l'anémie, la neutropénie, la thrombocytopénie et l'élévation des tests hépatiques avec une hépatomégalie. Le symptôme le plus sévère de la maladie est le bloc auriculo-ventriculaire complet congénital et irréversible."},"de":{"name":"Lupus erythematosus, neonataler","definition":"Eine seltene systemische Autoimmunerkrankung, die durch kutane Läsionen, Leberfunktionsstörungen, hämatologische Anomalien und/oder Herzrhythmusstörungen gekennzeichnet ist und durch die transplazentare Passage von mütterlichen SS-A- und SS-B-Autoantikörpern verursacht wird. Die typischste kutane Manifestation ist ein makuläres, ringförmiges Erythem, das den Kopf, aber auch den Rumpf und die Extremitäten betrifft. Weitere reversible Merkmale sind Anämie, Neutropenie, Thrombozytopenie und erhöhte Leberwerte mit Hepatomegalie. Die schwerste Form der Erkrankung ist der irreversible kongenitale totale atrioventrikuläre Block."},"es":{"name":"Lupus eritematoso neonatal","definition":"Es una enfermedad autoinmune sistémica poco frecuente caracterizada por lesiones cutáneas, disfunción hepática, anomalías hematológicas y/o arritmia cardíaca, causada por el paso transplacentario de los autoanticuerpos maternos SS-A y SS-B. La manifestación cutánea más típica es el eritema anular macular afectando a la cabeza, aunque también al tronco y a las extremidades. Otros hallazgos adicionales reversibles incluyen anemia, neutropenia, trombocitopenia y un aumento de los parámetros hepáticos junto con hepatomegalia. La presentación más grave es el bloqueo auriculoventricular completo congénito irreversible."},"it":{"name":"Lupus eritematoso neonatale","definition":"Si tratta di una malattia rara sistemica autoimmune, caratterizzata da lesioni cutanee, disfunzione epatica, anomalie ematologiche e/o aritmia cardiaca, causata dal passaggio transplacentare degli autoanticorpi materni SS-A e SS-B. Il quadro clinico cutaneo caratteristico è un eritema anulare maculare che interessa la testa, il tronco e gli arti. Altri segni clinici reversibili sono l'anemia, la neutropenia, la trombocitopenia e i parametri epatici elevati con epatomegalia. La forma più grave della malattia si manifesta con il blocco atrioventricolare completo congenito irreversibile."},"nl":{"name":"Neonatale lupus erythematosus","definition":"Een zeldzame, systemische auto-immuunziekte, gekarakteriseerd door huidlaesies, leverdisfunctie, hematologische anomalieën, en/of hartritmestoornissen, en veroorzaakt door transplacentale passage van maternale SS-A en SS-B auto-antilichamen. De meest typische cutane manifestatie is een maculair annulair erytheem dat hoofd, romp en ledematen aantast. Andere omkeerbare kenmerken zijn onder meer anemie, neutropenie, trombocytopenie, en verhoogde leverparameters met hepatomegalie. De meest ernstige presentatie van de ziekte is onomkeerbaar congenitaal totaal atrioventriculair blok."},"pt":{"name":"Lupus eritomatoso neonatal"},"pl":{"name":"Toczeń rumieniowaty noworodków"},"cs":{"name":"Neonatální lupus erythematodes"},"uk":{"name":"Неонатальний червоний вовчак","definition":"A rare systemic autoimmune disease characterized by cutaneous lesions, hepatic dysfunction, hematological abnormalities, and/or cardiac arrhythmia, and caused by transplacental passage of maternal SS-A and SS-B autoantibodies. The most typical cutaneous manifestation is a macular annular erythema affecting the head, but also trunk and extremities. Other reversible features include anemia, neutropenia, thrombocytopenia, and elevation of liver parameters with hepatomegaly. The most severe presentation of the disease is irreversible congenital total atrioventricular block."},"zh":{"name":"新生儿红斑狼疮","definition":"本病是一种罕见的全身性自身免疫性疾病，以皮肤损害、肝功能障碍、血液学异常和/或心律失常为特征，由母体SS-A和SS-B自身抗体通过胎盘而引起。最典型的皮肤表现是影响头部、躯干和四肢的黄斑环状红斑。其他可逆特征包括贫血、中性粒细胞减少、血小板减少以及肝肿大时肝脏参数升高。本病最严重的表现是不可逆转的先天性全房室传导阻滞。"},"tr":{"name":"Yenidoğan lupus eritematozusu"}},"xrefs":[{"source":"ICD-10","code":"M32.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KA07.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"213855225"},{"source":"MONDO","code":"0018360","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536397","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0409979","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10057887","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":398091,"name":"Secondary neonatal autoimmune disease","classifications":[196,231]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"United States","status":"Validated","source":"9061661[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":5.0,"area":"United States","status":"Validated","source":"30252317[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-23","source":"29116459[PMID]_25240481[PMID]_3058253[PMID]_31112454[PMID]_20696019[PMID]","terms":[{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001871","label":"Abnormality of blood and blood-forming tissues","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012722","label":"Heart block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040186","label":"Maculopapular exanthema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025300","label":"Malar rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001036","label":"Parakeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011702","label":"Abnormal electrophysiology of sinoatrial node origin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001915","label":"Aplastic anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002135","label":"Basal ganglia calcification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Excluded (0%)","criteria":null}]}}