{"orpha":228293,"name":"Pseudoxanthoma elasticum-like papillary dermal elastolysis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PXE-like papillary dermal elastolysis"],"definition":"Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228293/","orphanet_url":"https://www.orpha.net/en/disease/detail/228293","names":{"fr":{"name":"Elastolyse dermique papillaire, type pseudoxanthome élastique","synonyms":["Elastolyse dermique papillaire, type PXE"],"definition":"L'élastolyse dermique papillaire, type pseudoxanthome élastique (PXE) est un trouble rare, idiopathique et acquis du tissu dermique. Elle se caractérise par de nombreuses papules jaunâtres de 2 à 3 mm, non folliculaires et asymptomatiques, qui tendent à converger en plaques de type pavimenteuses distribuées de manière symétrique au niveau postérieur du cou, de la région supraclaviculaire, axillaire et parfois de l'abdomen. Contrairement au PXE, ces lésions cutanées présentent une élimination sélective (absence ou perte prononcée) des fibres élastiques dans le derme papillaire, et il n'y a pas d'atteinte systémique."},"de":{"name":"Pseudoxanthoma elasticum-ähnliche papilläre dermale Elastolyse","synonyms":["PXE-ähnliche Elastolyse, papilläre dermale"],"definition":"Pseudoxanthoma elasticum-ähnliche papilläre dermale Elastolyse (PXE-PDE) ist eine seltene, erworbene, idiopathische Erkrankung des Hautgewebes, die durch zahlreiche, asymptomatische, 2-3 mm große, gelbliche, nicht-follikuläre Papeln gekennzeichnet ist, die dazu neigen, zu kopfsteinartigen Plaques zu konvergieren, die symmetrisch über den hinteren Hals, die supraklavikuläre Region, die Axillen und manchmal den Bauch verteilt sind. Im Gegensatz zu PXE zeigen diese Hautläsionen eine selektive Eliminierung (Fehlen oder ausgeprägter Verlust) der elastischen Fasern in der papillären Dermis und es besteht keine systemische Beteiligung."},"es":{"name":"Elastolisis dérmica papilar similar a pseudoxantoma elástico","synonyms":["Elastolisis dérmica papilar pseudoxantoma elástico-like","Elastolisis dérmica papilar tipo PXE"],"definition":"La elastolisis dérmica papilar similar a pseudoxantoma elástico (EDP-PXE) es un proceso adquirido idiopático del tejido dérmico poco frecuente, caracterizado por múltiples pápulas asintomáticas, amarillentas no foliculares, de 2-3 mm, que suelen confluir formando placas con un aspecto ''en empedrado'' distribuidas simétricamente en la cara postero-lateral del cuello, la región supraclavicular, las axilas y, en ocasiones, el abdomen. A diferencia del PXE, estas lesiones cutáneas presentan una reducción selectiva (ausencia o pérdida intensa) de las fibras elásticas de la dermis papilar y no se asocia con lesiones sistémicas."},"it":{"name":"Elastocitosi dermica papillare simil-pseudoxantoma elastico","synonyms":["Elastocitosi dermica papillare PXE-simile"],"definition":"L'elastolisi dermica papillare simil-pseudoxantoma elastico (PXE-PDE) è una malattia rara, acquisita e idiopatica del derma, caratterizzata dalla presenza di numerose papule giallastre non follicolari asintomatiche delle dimensioni di 2-3 mm, che tendono a convergere in placche dall'aspetto acciottolato, distribuite in modo simmetrico nella parte posteriore del collo, nella regione sopra-clavicolare, sotto le ascelle e, talvolta, sull'addome. A differenza dello PXE, queste lesioni cutanee sono caratterizzate dall'eliminazione selettiva (assenza o notevole perdita) delle fibre elastiche del derma papillare, senza interessamento sistemico."},"nl":{"name":"Pseudoxanthoma elasticum-achtige papillaire dermale elastolyse","synonyms":["PXE-achtige papillaire dermale elastolyse"],"definition":"Pseudoxanthoma elasticum-achtige papillaire dermale elastocytose (PXE-PDE) is een zeldzame, verworven, idiopathische aandoening van het huidweefsel die wordt gekarakteriseerd door talrijke, asymptomatische, gelige, niet-folliculaire papels met een omvang van 2-3 mm, met een neiging te convergeren tot kassei-achtige plaques die symmetrisch verdeeld zijn over de nek, het supraclaviculair gebied, de oksels, en soms de buik. In tegenstelling tot PXE vertonen deze huidletsels selectieve eliminatie (afwezigheid of uitgesproken verlies) van elastische vezels in de papillaire dermis en is er geen systemische betrokkenheid."},"pt":{"name":"Elastocitose da papila dérmica do tipo pseudoxantoma elástico"},"pl":{"name":"Brodawkowata elastozytoza skóry podobna do Pseudoxanthoma elasticum","synonyms":["Brodawkowata elastozytoza skóry podobna do PXE"]},"cs":{"name":"Papilární kožní elastocytóza podobná pseudoxanthoma elasticum","synonyms":["Papilární kožní elastocytóza podobná PXE"]},"uk":{"name":"Псевдоксантома еластичноподібний папілярно-дермальний еластоз","synonyms":["PXE-подібний папілярний дермальний еластоліз"],"definition":"Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement."},"zh":{"name":"弹性假黄瘤样乳头状皮肤弹性蛋白离解","synonyms":["弹性假黄瘤样乳头状皮肤弹性蛋白离解"],"definition":"假黄瘤黄瘤样乳头状皮肤肥大细胞增多症（PXE-PDE）是一种罕见的获得性特发性皮肤组织疾病，其特征是大量的无症状、2-3毫米、淡黄色、非滤泡性丘疹，这些丘疹趋向于聚集成鹅卵石样斑块，这些斑块对称分布于颈部后部、锁骨上区、腋窝，有时出现在腹部。与PXE不同的是，这些皮损表现为真皮乳头状层弹性纤维选择性消失（缺失或明显缺失），没有全身性受累表现。"},"tr":{"name":"Psödoksantom elastikum benzeri papiller dermal elastoliz","synonyms":["PXE-benzeri papiller dermal elastoliz"]}},"xrefs":[{"source":"ICD-10","code":"L98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE41.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"704601885"},{"source":"MONDO","code":"0016448","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4049455","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":228221,"name":"Acquired dermis elastic tissue disorder with decreased elastic tissue","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}