{"orpha":137810,"name":"Nodular cutaneous amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PLCNA","Primary localized cutaneous nodular amyloidosis"],"definition":"Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren's syndrome and CREST syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137810/","orphanet_url":"https://www.orpha.net/en/disease/detail/137810","names":{"fr":{"name":"Amylose cutanée nodulaire","synonyms":["Amylose cutanée nodulaire primitive localisée","PLCNA"],"definition":"L'amylose cutanée nodulaire (ACN) est la forme la plus rare d'amylose cutanée primitive , une maladie de la peau caractérisée par l'accumulation de dépôts amyloïdes dans le derme. Sur le plan clinique, elle se manifeste par des nodules croûteux, cireux et jaunâtres et des papules sur le visage, les extrémités inférieures, le tronc, le cuir chevelu et les organes génitaux. Sur le plan histologique, elle est caractérisée par le dépôt localisé de substance amyloïde dérivée des immunoglobulines dans le derme papillaire et l'hypoderme. L'ACN peut être associée à des troubles du tissu conjonctif tels que le syndrome de Gougerot-Sjögren et le syndrome CREST."},"de":{"name":"Noduläre kutane Amyloidose","synonyms":["Amyloidose, kutane lokalisierte noduläre primäre","NPLCA","PLCNA"],"definition":"Die Primäre lokalisierte kutane noduläre Amyloidose (PLCNA) ist die seltenste Form der primären kutanen Amyloidose (s. dort), einer Hautkrankheit mit Anhäufung von Amyloidablagerungen in der Dermis. Die PLCNA ist klinisch gekennzeichnet durch gelbliche, wachsartige verkrustete Knoten und Papeln im Gesicht, an den unteren Gliedmassen, an Stamm, Kopfhaut und Genitalien. Histologisches Merkmal ist die Ablagerung von aus Immunglobulin hergeleitetem Amyloid in der papillären Dermis und Subkutis. PLCNA kann mit Bindegewebskrankheiten wie Sjögren-Syndrom und CREST-Syndrom (s.diese Termini) assoziiert sein."},"es":{"name":"Amiloidosis cutánea nodular","synonyms":["Amiloidosis nodular primaria cutánea localizada","PLCNA"],"definition":"La amiloidosis nodular cutánea localizada primaria (PLCNA) es la forma menos frecuente de la amiloidosis cutánea primaria (consulte este término), una enfermedad de la piel con acumulación de depósitos amiloides en la dermis, y se caracteriza clínicamente por nódulos y pápulas amarillentas de costra cerosa en la cara, las extremidades inferiores, el tronco, el cuero cabelludo y los genitales, e histológicamente por depósitos amiloides localizados derivados de inmunoglobulina en la dermis papilar y el subcutis. La PLCNA puede estar asociada con trastornos del tejido conectivo tales como el síndrome de Sjögren y el síndrome CREST (consulte estos términos)."},"it":{"name":"Amiloidosi cutanea nodulare","synonyms":["Amiloidosi nodulare cutanea localizzata primitiva","PLCNA"],"definition":"L'amiloidosi nodulare cutanea localizzata primitiva (PLCNA) è la forma più rara dell'amiloidosi cutanea primitiva (si veda questo termine), una malattia cutanea caratterizzata dall'accumulo di depositi di amiloide nel derma, che si contraddistingue, dal punto di vista clinico, per la presenza di papule e noduli crostosi di colorito giallo-cereo sulla faccia, gli arti inferiori, il tronco, il cuoio capelluto e, dal punto di vista istologico, dal deposito localizzato di amiloide derivata dalle immunoglobuline nel derma papillare e nel sottocute. La PLCNA può associarsi ai disturbi del tessuto connettivo, come le sindromi di Sjögren e CREST (si vedano questi termini)."},"nl":{"name":"Nodulaire cutane amyloïdose","synonyms":["PLCNA","Primaire gelokaliseerde cutane nodulaire amyloïdose"],"definition":"De meest zeldzame vorm van primaire cutane amyloïdose, een aandoening van huid gekenmerkt door accumulatie van deposities van amyloïd dermis, klinisch gekenmerkt door gelige wasachtige korstige noduli en papels op aangezicht, onderste extremiteiten, romp, scalp, en geslachtsorganen, en histologisch door gelokaliseerde depositie van amyloïd afgeleid van immunoglobuline in stratum papillare en subcutis. Primaire gelokaliseerde cutane nodulaire amyloïdose (PLCNA) kan geassocieerd zijn met aandoeningen van bindweefsel, zoals syndroom van Sjögren en CREST-syndroom."},"pt":{"name":"Amiloidose cutânea, forma nodular"},"pl":{"name":"Guzkowata amyloidoza skórna","synonyms":["Pierwotna zlokalizowana guzkowata amyloidoza skórna","plCNA"]},"cs":{"name":"Nodulární kožní amyloidóza","synonyms":["PLCNA","Primární nodulární amyloidóza lokalizovaná na kůži"]},"uk":{"name":"Вузликовий шкірний амілоїдоз","synonyms":["PLCNA","Первинний локалізований шкірний вузликовий амілоїдоз"],"definition":"Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren’s syndrome and CREST syndrome (see these terms)."},"zh":{"name":"结节性皮肤淀粉样变","synonyms":["原发性皮肤结节性淀粉样变性"]},"tr":{"name":"Nodüler kutanöz amiloidoz","synonyms":["PLCNA","Primer lokalize kutanöz nodüler amiloidoz"]}},"xrefs":[{"source":"ICD-10","code":"E85.4+","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"L99.0*","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D00.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1377590506"},{"source":"MONDO","code":"0015302","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274331","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10562","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056953","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":137807,"name":"Primary cutaneous amyloidosis","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}