{"orpha":353220,"name":"Familial primary localized cutaneous amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FPLCA"],"definition":"A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-353220/","orphanet_url":"https://www.orpha.net/en/disease/detail/353220","names":{"fr":{"name":"Amylose cutanée familiale isolée","synonyms":["FPLCA"],"definition":"Amylose cutanée primitive rare caractérisée par la survenue de cas familiaux d'amylose maculeuse et/ou de lichen amyloïde dus à une dégénérescence fibrillaire et à l'apoptose des kératinocytes basaux suivies d'une conversion des masses de filaments en matériel amyloïde dans le derme papillaire. Les patients présentent généralement une éruption prurigineuse à type de papules hyperkératosiques groupées, qui peuvent confluer pour former des plaques hyperkératosiques avec une prédilection pour les membres inférieurs (lichen amyloïde) ou des macules hyperpigmentées, parfois réticulées, que l'on observe le plus souvent sur le dos, la poitrine ou au niveau de la région interscapulaire (amylose maculeuse)."},"de":{"name":"Familiäre primäre lokalisierte kutane Amyloidose","synonyms":["FPLCA"],"definition":"Eine seltene primäre kutane Amyloidose, die durch das familiäre Auftreten von Lichen- und/oder Makula-Amyloidose gekennzeichnet ist, die auf die fibrilläre Degeneration und Apoptose basaler Keratinozyten zurückzuführen ist, gefolgt von der Umwandlung fadenförmiger Gewebeverdichtungen in amyloides Material in der papillären Dermis. Die Patienten präsentieren sich typischerweise mit einem juckenden Ausbruch von gruppierten hyperkeratotischen Papeln, die zu hyperkeratotischen Plaques zusammenwachsen können, mit einer Vorliebe für die unteren Gliedmaßen (Flechtenamyloidose), oder mit hyperpigmentierten Makulae, manchmal mit einem netzartigen Muster, die am häufigsten auf dem Rücken, der Brust oder im interskapulären Bereich auftreten (makuläre Amyloidose)."},"es":{"name":"Amiloidosis cutánea primaria familiar localizada","synonyms":["FPLCA"],"definition":"Es una amiloidosis cutánea primaria poco frecuente caracterizada por la aparición familiar de liquen y/o amiloidosis macular debido a la degeneración fibrilar y la apoptosis de queratinocitos basales, seguida de una conversión de masas filamentosas a material amiloide en la dermis papilar. Los pacientes suelen presentarse con una erupción pruriginosa de pápulas hiperqueratósicas agrupadas, que pueden confluir dando lugar a placas hiperqueratósicas, con una predilección por las extremidades inferiores (liquen amiloide) o con máculas hiperpigmentadas, en ocasiones siguiendo un patrón reticulado, que se desarrollan con mayor frecuencia en la espalda, el tórax o en la zona interescapular (amiloidosis macular)."},"it":{"name":"Amiloidosi cutanea localizzata primitiva familiare","synonyms":["FPLCA"],"definition":"Si tratta di un'amiloidosi cutanea familiare primitiva rara, caratterizzata da lichen e/o amiloidosi maculare secondaria alla degenerazione fibrillare e all'apoptosi dei cheratinociti basali, seguita dalla conversione delle masse filamentose in materiale amiloide nel derma papillare. In genere i pazienti presentano un'eruzione pruriginosa di papule ipercheratosiche raggruppate, che possono confluire formando placche ipercheratosiche, con una predilezione per gli arti inferiori (amiloidosi da lichen), o macule iperpigmentate, talvolta reticolate, che di solito si localizzano sulla schiena, sul torace o tra le scapole (amiloidosi maculare)."},"nl":{"name":"Familiale primaire gelokaliseerde cutane amyloïdose","synonyms":["FPLCA"],"definition":"Een zeldzame primaire cutane amyloïdose, gekarakteriseerd door familiaal voorkomen van lichen amyloidosus en/of maculaire amyloïdose als gevolg van fibrillaire degeneratie en apoptose van basale keratinocyten, gevolgd door conversie van filamenteuze massa's tot amyloïd materiaal in het stratum papillare. Patiënten vertonen doorgaans een pruritische eruptie van gegroepeerde hyperkeratotische papels, die kunnen samenvloeien tot hyperkeratotische plaques, met een voorkeur voor de onderste ledematen (lichen amyloidosus), of gehyperpigmenteerde maculae, soms met een reticulair patroon, die doorgaans ontstaan op de rug, thorax of interscapulaire gebieden (maculaire amyloïdose)."},"pt":{"name":"Amiloidose cutânea localizada primária, forma familiar"},"pl":{"name":"Rodzinna pierwotna zlokalizowana amyloidoza skórna","synonyms":["FplCA"]},"cs":{"name":"Familiární primární lokalizovaná kožní amyloidóza","synonyms":["FPLCA"]},"uk":{"name":"Сімейний первинний локалізований шкірний амілоїдоз","synonyms":["FPLCA"],"definition":"A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis)."},"zh":{"name":"家族性原发局灶性皮肤淀粉样变性","synonyms":["FPLCA"]},"tr":{"name":"Ailesel primer lokalize kutanöz amiloidoz","synonyms":["FPLCA"]}},"xrefs":[{"source":"OMIM","code":"105250","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"613955","qualifier":"BTNT","icd_relation":null,"validated":true},{"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.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0007101","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1304242","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":477808,"name":"Other genetic dermis disorder","classifications":[156]},{"orpha":137807,"name":"Primary cutaneous amyloidosis","classifications":[187]}],"children":[],"genes":[{"symbol":"IL31RA","name":"interleukin 31 receptor A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19690585[PMID]","hgnc":"18969","ensembl":"ENSG00000164509","omim":"609510","loci":["5q11.2"]},{"symbol":"OSMR","name":"oncostatin M receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20507362[PMID]","hgnc":"8507","ensembl":"ENSG00000145623","omim":"601743","loci":["5p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}