{"orpha":319635,"name":"Amyloidosis cutis dyschromia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Amyloidosis cutis dyschromica"],"definition":"A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319635/","orphanet_url":"https://www.orpha.net/en/disease/detail/319635","names":{"fr":{"name":"Amylose cutanée dyschromique","definition":"Une amylose cutanée primaire rare, caractérisée par une hyperpigmentation maculaire ou réticulaire avec des lésions hypopigmentées et hyperpigmentées en goutte, distribuées de manière symétrique, progressant graduellement avec les années pour atteindre la quasi-totalité du corps (le visage, les mains, les pieds et le cou sont relativement épargnés). Les patients sont généralement asymptomatiques, mais un léger prurit peut être associé. Un dépôt amyloïde est observé dans le derme papillaire à la biopsie cutanée. La maladie n'est pas associée à une amylose systémique, et l'association avec une morphée généralisée, un Parkinsonisme atypique, une spasticité, une faiblesse motrice et un carcinome du côlon est rare."},"de":{"name":"Amyloidosis cutis dyschromica","definition":"Eine seltene primäre kutane Amyloidose, die durch makuläre oder retikuläre Hyperpigmentierung mit symmetrisch verteilten guttaten hypo- und hyperpigmentierten Läsionen gekennzeichnet ist, die im Laufe der Jahre allmählich fortschreiten und fast den gesamten Körper betreffen (mit relativer Aussparung von Gesicht, Händen, Füßen und Hals). Die Patienten sind in der Regel asymptomatisch, jedoch kann ein leichter Juckreiz auftreten. Bei der Hautbiopsie werden Amyloid-Ablagerungen in der papillären Dermis beobachtet. Eine systemische Amyloidose liegt nicht vor und eine Assoziation mit generalisierter Morphea, atypischem Parkinsonismus, Spastik, motorischer Schwäche oder Kolonkarzinom ist selten."},"es":{"name":"Amiloidosis cutánea discrómica","definition":"Es una amiloidosis cutánea primaria poco frecuente caracterizada por hiperpigmentación macular o reticular con lesiones hipo- e hiperpigmentadas guttata o ''en gotas'' de distribución simétrica que progresan gradualmente durante años llegando a cubrir la casi totalidad del cuerpo (con una afectación moderada de cara, manos, pies y cuello). Los afectados suelen ser asintomáticos, sin embargo, puede estar asociado un prurito leve. En la biopsia de piel se observa deposición de amiloide en la dermis papilar. No se produce amiloidosis sistémica y la asociación con morfea generalizada, parkinsonismo atípico, espasticidad, debilidad motora o cáncer de colon es infrecuente."},"it":{"name":"Amiloidosi cutanea discromica","definition":"L'amiloidosi della cute discromica è un'amiloidosi cutanea primitiva rara, caratterizzata da iperpigmentazione maculare o reticolata con lesioni ipo- e iper-pigmentate guttate distribuite in modo simmetrico, che negli anni progrediscono fino ad interessare quasi tutto il corpo (risparmiando relativamente il volto, le mani, i piedi e il collo). Di solito i pazienti sono asintomatici, oppure presentano un leggero prurito. La biopsia cutanea evidenzia la presenza di depositi di amiloidi nel derma papillare. Non si associa all'amiloidosi sistemica, ma raramente si associa a morfea generalizzata, parkinsonismo atipico, spasticità, debolezza motoria e carcinoma del colon."},"nl":{"name":"Amyloidosis cutis dyschromia","synonyms":["Amyloidosis cutis dyschromica"],"definition":"Een zeldzame, primaire cutane amyloïdose, gekarakteriseerd door maculaire of reticulaire hyperpigmentatie met symmetrisch verdeelde, druppelvormige gehypo- en gehyperpigmenteerde laesies die met de jaren geleidelijk evolueren om bijna het hele lichaam te treffen (waarbij gelaat, handen, voeten en nek/hals relatief gespaard blijven). Patiënten zijn meestal asymptomatisch, hoewel milde pruritus kan geassocieerd zijn. Bij een huidbiopsie wordt afzetting van amyloïd in de papillaire dermis waargenomen. Systemische amyloïdose is niet aanwezig en associatie met gegeneraliseerde morfea, atypisch parkinsonisme, spasticiteit, motorische zwakte of coloncarcinoom is zeldzaam."},"pt":{"name":"Amiloidose com discromia cutânea"},"pl":{"name":"Amyloidoza skórna z dyschromią","synonyms":["Amyloidosis cutis dyschromica"]},"cs":{"name":"Amyloidosis cutis dyschromia","synonyms":["Amyloidosis cutis dyschromica"]},"uk":{"name":"Дисхромія при амілоїдозі кутикули","synonyms":["Дисхромічний амілоїдоз шкіри"],"definition":"A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare."},"zh":{"name":"皮肤淀粉样变性","synonyms":["皮肤异色病样淀粉样变"],"definition":"一种罕见的原发性皮肤淀粉样变性，其特征为黄斑或网状色素沉着过度，伴有对称分布的点滴状低色素和色素沉着过度的病变，这些病变随着时间的推移逐渐发展到几乎累及全身(面部、手、脚和颈部相对保留)。患者通常无症状，但可能伴有轻度瘙痒。皮肤活检可观察到真皮乳头状层中的淀粉样沉积物。系统性淀粉样变性并不存在，少见与泛发性睡眠、非典型帕金森综合征、痉挛、运动无力或结肠癌相关的病例。"},"tr":{"name":"Amiloidoz kutis diskromi","synonyms":["Amiloidoz kutis diskromika"]}},"xrefs":[{"source":"OMIM","code":"617920","qualifier":"E","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":"0017906","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4554601","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":[{"symbol":"GPNMB","name":"glycoprotein nmb","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29336782[PMID]","hgnc":"4462","ensembl":"ENSG00000136235","omim":"604368","loci":["7p15.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":27.0,"area":"Worldwide","status":"Validated","source":"24746296[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24746296[PMID]"}],"phenotypes":null}