{"orpha":2483,"name":"Melkersson-Rosenthal syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare orofacial granulomatosis characterized by the triad of recurrent or persistent orofacial edema (facial and lip edemas), fissured tongue, and relapsing, unilateral or bilateral peripheral facial nerve paralysis. Most cases present with partial symptoms. Typical age of onset is in childhood or adolescence. Histological examination shows non-caseating epithelioid cell granulomas and lymphedema.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2483/","orphanet_url":"https://www.orpha.net/en/disease/detail/2483","names":{"fr":{"name":"Syndrome de Melkersson-Rosenthal","definition":"Granulomatose orofaciale caractérisée par la triade oedème orofacial récurrent ou persistant (oedèmes des lèvres et du visage), langue plicaturée et paralysie unilatérale ou bilatérale récurrente du nerf facial périphérique. La plupart des patients ne présentent qu'une partie de ces symptômes. La maladie se déclare habituellement pendant l'enfance ou l'adolescence. L'examen histopathologique met en évidence des granulomes épithélioïdes sans nécrose caséeuse, ainsi qu'un lymphoedème."},"de":{"name":"Melkersson-Rosenthal-Syndrom","definition":"Eine seltene orofaziale Granulomatose, die durch die Trias rezidivierender oder persistierender orofazialer Ödeme (Gesichts- und Lippenödeme), gespaltene Zunge und rezidivierender, ein- oder beidseitiger peripherer Gesichtsnervenlähmung gekennzeichnet ist. In den meisten Fällen treten die Symptome nur teilweise auf. Die Krankheit beginnt in der Regel im Kindes- oder Jugendalter. Die histologische Untersuchung zeigt nicht kasernierende epitheloidzellige Granulome und Lymphödeme."},"es":{"name":"Síndrome de Melkersson-Rosenthal","definition":"Es una granulomatosis orofacial poco frecuente caracterizada por la tríada de edema orofacial recurrente o persistente (edema facial y labial), fisura lingual y parálisis facial periférica recidivante uni o bilateral. La mayoría de los casos se presentan con síntomas parciales. Debuta habitualmente en la infancia o la adolescencia. El examen histológico muestra granulomas de células epitelioides no caseificantes y linfedema."},"it":{"name":"Sindrome di Melkersson-Rosenthal","definition":"Si tratta di una granulomatosi orofacciale rara, caratterizzata dalla triade edema orofacciale ricorrente o persistente (edema del viso e delle labbra), fissurazioni della lingua e paralisi recidivante, mono- o bilaterale, dei nervi facciali periferici. La maggior parte dei pazienti presenta sintomi parziali. Di solito la malattia esordisce nell'infanzia o nell'adolescenza. L'esame istologico mostra granulomi non caseosi di cellule epitelioidi e linfedema."},"nl":{"name":"Syndroom van Melkersson-Rosenthal","definition":"Een zeldzame orofaciale granulomatose, gekarakteriseerd door de triade van recidiverend of persisterend orofaciaal oedeem (oedeem van aangezicht en lip), fissuren in tong, en recidiverende, unilaterale of bilaterale perifere verlamming van aangezichtszenuw. De meeste gevallen vertonen partiële symptomen. De ziekte vangt doorgaans aan in de kindertijd of adolescentie. Histologisch onderzoek toont niet-verkazend granuloom van epithelioïde cellen en lymfoedeem."},"pt":{"name":"Síndrome Melkersson-Rosenthal"},"pl":{"name":"Zespół Melkerssona i Rosenthala"},"cs":{"name":"Melkerssonův-Rosenthalův syndrom","synonyms":["Melkersson-Rosenthalův syndrom"]},"uk":{"name":"Синдром Мелькерссона-Розенталя","definition":"A rare orofacial granulomatosis characterized by the triad of recurrent or persistent orofacial edema (facial and lip edemas), fissured tongue, and relapsing, unilateral or bilateral peripheral facial nerve paralysis. Most cases present with partial symptoms. Typical age of onset is in childhood or adolescence. Histological examination shows non-caseating epithelioid cell granulomas and lymphedema."},"zh":{"name":"梅-罗综合征"},"tr":{"name":"Melkersson-Rosenthal sendromu"}},"xrefs":[{"source":"OMIM","code":"155900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G51.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8B88.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1721639563"},{"source":"MONDO","code":"0007969","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008556","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0025235","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7010","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10027166","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79384,"name":"Rare urticaria","classifications":[187,212]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100825","label":"Cheilitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","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:0000298","label":"Mask-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010471","label":"Oligosacchariduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100539","label":"Periorbital edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000221","label":"Furrowed tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null}]}}