{"orpha":137814,"name":"Macular amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137814/","orphanet_url":"https://www.orpha.net/en/disease/detail/137814","names":{"fr":{"name":"Amylose maculeuse","definition":"L'amylose maculeuse est une forme chronique rare d'amylose cutanée , une maladie de la peau caractérisée par l'accumulation de dépôts amyloïdes dans le derme. Sur le plan clinique, elle se manifeste par des macules hyperkératotiques prurigineuses gris-brunes donnant un schéma de pigmentation ridé ou réticulé généralement dans le haut du dos et les sites extenseurs des bras, des avant-bras et des jambes. Sur le plan histologique, la maladie est caractérisée par le dépôt de substance amyloïde dans le derme supérieur et à proximité de la couche de cellules basales de l'épiderme. L'amylose maculeuse est généralement associée à d'autres maladies cutanées, telles que la dermatite atopique."},"de":{"name":"Amyloidose, makuläre","definition":"Die Makuläre Amyloidose (MA) ist eine seltene chronische Form der kutanen Amyloidose (s. dort), einer Hautkrankheit mit Anhäufung von Amyloidablagerungen in der Dermis. Die MA ist klinisch gekennzeichnet durch juckende, hyperkeratotische grau-braune Maculae mit wellen- oder netzförmigem Pigmentierungsmuster, in der Regel im oberen Rückenbereich, an den Streckseiten der Ober- und Unterarme und Beine. Histologisches Merkmal ist die Ablagerung von Amyloid in der oberen Dermis und dicht an der Basalzellschicht der Epidermis. Die MA ist häufig mit anderen Hautkrankheiten, z.B. mit atopischer Dermatitis, assoziiert."},"es":{"name":"Amiloidosis macular","definition":"La amiloidosis macular (MA) es una forma crónica poco frecuente de amiloidosis cutánea (consulte este término), una enfermedad de la piel por acumulación de depósitos amiloides en la dermis, y se caracteriza clínicamente por máculas de color gris-marrón hiperqueratóticas pruriginosas que dan una pigmentación de patrón ondulado o reticular, normalmente en la parte superior de la espalda y las superficies extensoras de los brazos, los antebrazos y las piernas, e histológicamente por los depósitos amiloides en la dermis superior y cerca de la capa de células basales de la epidermis. La MA está asociada normalmente con otras enfermedades de la piel, como la dermatitis atópica."},"it":{"name":"Amiloidosi maculare","definition":"L'amiloidosi maculare (MA) è una forma cronica rara di amiloidosi cutanea (si veda questo termine), una malattia cutanea caratterizzata dall'accumulo di depositi di amiloide nel derma. È caratterizzata, dal punto di vista clinico, da macule grigio-brune ipercheratosiche pruriginose con una pigmentazione reticolare od ondulata, di solito nella parte superiore della schiena e nelle parti estensorie delle braccia, degli avambracci e delle gambe e, dal punto di vista istologico, dal deposito di amiloide nel derma superiore e in prossimità dello strato cellulare basale dell'epidermide. La MA si associa di solito ad altre malattie cutanee, come la dermatite atopica."},"nl":{"name":"Maculaire amyloïdose","definition":"Een zeldzame chronische vorm van cutane amyloïdose, een aandoening van huid gekenmerkt door accumulatie van deposities van amyloïd in dermis, klinisch gekenmerkt door pruritische hyperkeratotische grijsbruine maculae met een gerimpeld of reticulair patroon van pigmentatie en meestal gesitueerd op bovenrug en strekzijde van armen, onderarmen en benen, en histologisch door depositie van amyloïd in bovenste deel van dermis en nabij basale laag van epidermis. Maculaire amyloïdose (MA) is doorgaans geassocieerd met andere huidziekten, zoals atopische dermatitis."},"pt":{"name":"Amiloidose macular"},"pl":{"name":"Amyloidoza plamki"},"cs":{"name":"Makulární amyloidóza"},"uk":{"name":"Макулярний амілоїдоз","definition":"Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis."},"zh":{"name":"斑状淀粉样变性","definition":"斑状淀粉样变性（MA）是一种罕见的慢性皮肤淀粉样变性（见该词条），是一种以淀粉样蛋白沉积在真皮中为特征的皮肤病，临床特征为瘙痒性角化过度的灰褐色斑点，通常在手臂、前臂和腿部的上背部和伸肌部位呈波纹状或网状色素沉着，组织学特征是淀粉样蛋白沉积在真皮上部和表皮基底细胞层附近。MA通常与其他皮肤病相关，如特应性皮炎。"},"tr":{"name":"Maküler amiloidoz"}},"xrefs":[{"source":"ICD-10","code":"E85.4+","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-10","code":"L99.0*","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5D00.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1192013809"},{"source":"MONDO","code":"0015303","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0544839","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19885","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}