{"orpha":167635,"name":"Scleromyxedema","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Arndt-Gottron disease","Generalized lichenoid papular eruption","Generalized papular and sclerodermoid lichen myxedematosus"],"definition":"A rare lichen myxedematosus characterized by a progressive, generalized, papular, sclerodermoid cutaneous eruption usually occurring in association with monoclonal gammopathy, but in the absence of thyroid disease. Histological hallmark is the triad of dermal mucin deposition, fibroblast proliferation, and fibrosis. Patients present with relatively sudden onset of numerous closely spaced, waxy, firm papules and plaques predominantly involving the head, neck, trunk, and dorsal aspects of the extremities, on the background of thickened, edematous, erythematous skin with sclerodermoid appearance. Systemic involvement with cardiovascular, gastrointestinal, pulmonary, musculoskeletal, renal, or nervous system complications is common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-167635/","orphanet_url":"https://www.orpha.net/en/disease/detail/167635","names":{"fr":{"name":"Scléromyxoedème","synonyms":["Lichen myxoedémateux généralisé","Maladie d'Arndt-Gottron","Mucinose papuloscléreuse généralisée"],"definition":"Lichen myxoedémateux rare caractérisé par une éruption cutanée progressive, généralisée, papulaire et sclérodermique, survenant généralement en association avec une gammapathie monoclonale, mais en l'absence de maladie thyroïdienne. La triade de signes histologiques distinctifs est le dépôt de mucine dermique, la prolifération de fibroblastes et la fibrose. On observe chez les patients atteints une apparition relativement soudaine, principalement au niveau de la tête, du cou, du tronc et de la face dorsale des membres, de nombreuses papules et plaques cireuses, fermes et rapprochées les unes des autres, sur une peau épaissie, oedémateuse et érythémateuse d'aspect sclérodermique. Une atteinte systémique est fréquente avec des complications cardiovasculaires, gastro-intestinales, pulmonaires, musculo-squelettiques, rénales ou du système nerveux."},"de":{"name":"Skleromyxödem","synonyms":["Arndt-Gottron-Syndrom","Generalisierter papulärer und sklerodermoider Lichen myxoedematosus","Muzinose, lichenoide papuläre, generalisierte Variante"],"definition":"Ein seltener Lichen myxedematosus, der durch einen progressiven, generalisierten, papulösen, sklerodermoidalen Hautausschlag gekennzeichnet ist, der in der Regel in Verbindung mit einer monoklonalen Gammopathie auftritt, jedoch ohne Schilddrüsenerkrankung. Histologisches Kennzeichen ist der Dreiklang aus dermaler Muzinablagerung, Fibroblastenproliferation und Fibrose. Die Patienten präsentieren sich mit relativ plötzlich auftretenden, eng beieinander liegenden, wachsartigen, festen Papeln und Plaques, die vorwiegend Kopf, Hals, Rumpf und die dorsale Seite der Extremitäten betreffen, auf dem Hintergrund verdickter, ödematöser, erythematöser Haut mit sklerodermoidem Aussehen. Eine systemische Beteiligung mit kardiovaskulären, gastrointestinalen, pulmonalen, muskuloskelettalen, nieren- oder nervenbedingten Komplikationen ist häufig."},"es":{"name":"Escleromixedema","synonyms":["Enfermedad de Arndt-Gottron","Erupción papular liquenoide generalizada","Líquen mixedematoso generalizado papular y esclerodermoide","Mixedematosis papular y esclerodermoide generalizada"],"definition":"Es un liquen mixedematoso poco frecuente caracterizado por una erupción cutánea esclerodermoide, papular, generalizada y progresiva, que suele presentarse acompañada de una gammapatía monoclonal en ausencia de enfermedad tiroidea. El rasgo histológico característico es la tríada compuesta por un depósito dérmico de mucina, una proliferación de fibroblastos y fibrosis. Los pacientes debutan con el desarrollo relativamente repentino de numerosas pápulas y placas firmes de aspecto céreo y poco espaciadas que afectan predominantemente a la cabeza, la región cervical, el tronco y la cara dorsal de las extremidades sobre un fondo de piel engrosada, edematosa y eritematosa con una apariencia esclerodermiforme. Es común la afectación sistémica con complicaciones cardiovasculares, gastrointestinales, pulmonares, musculoesqueléticas, renales o del sistema nervioso."},"it":{"name":"Scleromixedema","synonyms":["Eruzione papulosa lichenoide generalizzata","Lichen mixedematoso sclerodermoide e papuloso generalizzato","Malattia di Arndt-Gottron"],"definition":"Si tratta di un lichen mixedematoso raro, caratterizzato da un'eruzione cutanea sclerodermoide papulare progressiva e generalizzata, che di solito si manifesta in concomitanza con una gammopatia monoclonale, in assenza di malattie della tiroide. Dal punto di vista istologico è caratterizzato dalla triade depositi di mucina nel derma, proliferazione dei fibroblasti e fibrosi. L'esordio è relativamente improvviso; i pazienti presentano numerose papule e placche cerose, compatte e ravvicinate, localizzate per lo più sulla testa, sul collo, sul tronco e sulla porzione dorsale degli arti, che insorgono su porzioni di cute ispessita, edematosa ed eritematosa con aspetto sclerodermoide. È comune l'interessamento sistemico con complicanze cardiovascolari, gastrointestinali, polmonari, muscoloscheletriche, renali o a livello del sistema nervoso."},"nl":{"name":"Scleromyxoedeem","synonyms":["Gegeneraliseerde lichenoïde papulaire eruptie","Gegeneraliseerde papulaire en sclerodermoïde lichen myxoedematosus","Ziekte van Arndt-Gottron"],"definition":"Een zeldzame lichen myxoedematosus, gekarakteriseerd door progressieve, gegeneraliseerde, papulaire, sclerodermoïde cutane eruptie, meestal geassocieerd met monoklonale gammopathie, maar in afwezigheid van aandoening van schildklier. Het typische histologische kenmerk is de triade van depositie van mucine in dermis, proliferatie van fibroblasten, en fibrose. Patiënten presenteren zich met relatief plots verschijnen van talrijke dicht op elkaar staande, wasachtige, stevige papels en plaques, voornamelijk op hoofd, nek, romp, en dorsale zijde van ledematen, tegen een achtergrond van verdikte, oedemateuze, erythemateuze huid met sclerodermoïd uiterlijk. Systemische betrokkenheid met cardiovasculaire, gastro-intestinale, pulmonale, musculoskeletale, renale, of nerveuze complicaties is gangbaar."},"pt":{"name":"Escleromixedema"},"pl":{"name":"Liszaj śluzowaty twardzinowy","synonyms":["Choroba Arndta i Gottrona","Uogólniona wysypka grudkowa liszajowata"]},"cs":{"name":"Skleromyxedém","synonyms":["Arndtova-Gottronova choroba","Generalizovaná lichenoidní papulární erupce","Generalizovaný papulární a sklerodermoidní lichen myxedematosus","Arndt-Gottronova choroba"]},"uk":{"name":"Склеромікседема","synonyms":["Хвороба Арндта-Готтрона","Генералізований ліхеноїдний папульозний висип","Генералізований папульозний та склеродермоїдний червоний плескатий лишай"],"definition":"A rare lichen myxedematosus characterized by a progressive, generalized, papular, sclerodermoid cutaneous eruption usually occurring in association with monoclonal gammopathy, but in the absence of thyroid disease. Histological hallmark is the triad of dermal mucin deposition, fibroblast proliferation, and fibrosis. Patients present with relatively sudden onset of numerous closely spaced, waxy, firm papules and plaques predominantly involving the head, neck, trunk, and dorsal aspects of the extremities, on the background of thickened, edematous, erythematous skin with sclerodermoid appearance. Systemic involvement with cardiovascular, gastrointestinal, pulmonary, musculoskeletal, renal, or nervous system complications is common."},"zh":{"name":"硬化性黏液水肿","synonyms":["全身性丘疹样和硬皮病样黏液水肿性苔藓"]},"tr":{"name":"Skleromiksödem","synonyms":["Arndt-Gottron hastalığı","Jeneralize likenoid papüler püskürme","Jeneralize papüler ve sklerodermoid liken miksödemöz"]}},"xrefs":[{"source":"ICD-10","code":"L98.5","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"EB90.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"286724475"},{"source":"MONDO","code":"0015665","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D053718","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0263390","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7615","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":402007,"name":"Lichen myxedematosus","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":250.0,"area":"Worldwide","status":"Validated","source":"25814746[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-16","source":"32358980[PMID]_31115676[PMID]_23874293[PMID]_25215418[PMID]","terms":[{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031047","label":"Paraproteinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002973","label":"Abnormality of the forearm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002056","label":"Abnormality of the glabella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011838","label":"Sclerodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025512","label":"Skin-colored papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030053","label":"Stiff skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011805","label":"Abnormal skeletal muscle morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030178","label":"Abnormality of central nervous system electrophysiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008509","label":"Aged leonine appearance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100771","label":"Hypoperistalsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006704","label":"Abnormal coronary artery morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030966","label":"Abnormal pulmonary artery morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006775","label":"Multiple myeloma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002926","label":"Abnormality of thyroid physiology","frequency":"Excluded (0%)","criteria":null}]}}