{"orpha":658584,"name":"Rowell syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare rheumatologic disease characterized by combination of systemic or cutaneous lupus erythematosus with erythema multiform-like skin lesions and characteristic immunologic findings including speckled pattern of antinuclear antibody, presence of anti-Ro/SSA or anti-La/SSB antibodies or rheumatoid factor. Chilblains may also be present. Patients may present with fever, hair loss, photosensitivity, polyarthralgia, morning stiffness, fatigue, weight loss and oral ulcers. Middle-aged women are predominantly affected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-658584/","orphanet_url":"https://www.orpha.net/en/disease/detail/658584","names":{"fr":{"name":"Syndrome de Rowell","definition":"Maladie rhumatologique rare caractérisée par une association de lupus érythémateux disséminé ou cutané et de lésions cutanées de type érythème polymorphe et des tests immunologiques caractéristiques, mettant notamment en évidence un motif moucheté d'anticorps antinucléaires, la présence d'anticorps anti-SSA/Ro ou anti-SSB/La ou un facteur rhumatoïde. Des engelures peuvent également être présentes. Les patients peuvent présenter une fièvre, une perte de cheveux, une photosensibilité, une polyarthralgie, une raideur matinale, une fatigue, une perte de poids et des ulcères buccaux. La maladie touche principalement les femmes d'âge moyen."},"de":{"name":"Rowell-Syndrom","definition":"Eine seltene rheumatologische Erkrankung, die durch eine Kombination aus systemischem oder kutanem Lupus erythematodes mit erythema multiforme-ähnlichen Hautläsionen und charakteristischen immunologischen Befunden gekennzeichnet ist, darunter ein fleckiges Muster von antinukleären Antikörpern, das Vorhandensein von Anti-Ro/SSA- oder Anti-La/SSB-Antikörpern oder Rheumafaktor. Auch Frostbeulen können auftreten. Die Patienten können Fieber, Haarausfall, Lichtempfindlichkeit, Polyarthralgie, Morgensteifigkeit, Müdigkeit, Gewichtsverlust und Mundgeschwüre aufweisen. Vorwiegend sind Frauen mittleren Alters betroffen."},"es":{"name":"Síndrome de Rowell","definition":"Es una enfermedad reumatológica poco frecuente caracterizada por la combinación de lupus eritematoso sistémico o cutáneo con lesiones cutáneas de tipo eritema multiforme y hallazgos inmunológicos característicos, como un patrón moteado en la prueba de anticuerpos antinucleares, y la presencia de anticuerpos anti-Ro/SSA o anti-La/SSB o del factor reumatoide. Los pacientes pueden presentar perniosis, fiebre, caída del cabello, fotosensibilidad, poliartralgia, rigidez matutina, cansancio, pérdida de peso y úlceras orales. Afecta predominantemente a mujeres de mediana edad."},"it":{"name":"Sindrome di Rowel"},"nl":{"name":"Syndroom van Rowell","definition":"Een zeldzame reumatologische aandoening, gekenmerkt door de combinatie van systemische of cutane lupus erythematosus met huidlaesies gelijkend op erythema multiforme en kenmerkende immunologische bevindingen waaronder gespikkeld patroon van antinucleair antilichaam, en aanwezigheid van anti-Ro/SSA of anti-La/SSB antilichamen of reumafactor. Perniose (winterhanden en/of wintervoeten) is mogelijk ook aanwezig. Patiënten kunnen zich presenteren met koorts, haarverlies, lichtgevoeligheid, polyartralgie, stijfheid in de ochtend, vermoeidheid, gewichtsverlies en ulcera van de mond. Hoofdzakelijk vrouwen van middelbare leeftijd worden getroffen."},"pt":{"name":"Síndrome Rowell"},"pl":{"name":"Zespół Rowella"},"cs":{"name":"Rowellův syndrom"},"uk":{"name":"Синдром Роуелла"}},"xrefs":[{"source":"ICD-10","code":"M32.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A40.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0041186","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"41186","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406637","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":315350,"name":"Autoimmune disease with skin involvement","classifications":[187]},{"orpha":182231,"name":"Rare rheumatologic disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":73.0,"area":"Worldwide","status":"Validated","source":"22170759[PMID]_32967943[PMID]_32607016[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"22170759[PMID]_32967943[PMID]_32607016[PMID]_ORPHANET"}],"phenotypes":null}