{"orpha":228247,"name":"Acquired pseudoxanthoma elasticum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acquired Gronblad-Strandberg-Touraine syndrome","Acquired PXE"],"definition":"A rare acquired dermis elastic tissue disorder characterized by clinical and histopathologic evidence of pseudoxanthoma elasticum in the absence of a family history or specific mutation. Patients present with predominantly cutaneous manifestations consisting of yellowish papules which coalesce into large plaques and are most commonly localized on the neck, axillae, groin, and flexural surfaces. Skin biopsy shows accumulation of clumped, calcified elastic fibers in the mid-dermis. Reported underlying factors include previous liver transplantation, exposure to penicillamine, or concomitant beta-thalassemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228247/","orphanet_url":"https://www.orpha.net/en/disease/detail/228247","names":{"fr":{"name":"Pseudoxanthome élastique acquis","synonyms":["PXE acquis","Syndrome de Gronblad-Strandberg-Touraine acquis"],"definition":"Anomalie acquise rare de l'élasticité du derme, caractérisée par des signes cliniques et histopathologiques de pseudoxanthome élastique en l'absence d'antécédents familiaux ou de mutation spécifique. Les manifestations cutanées prédominantes observées chez les patients sont des papules jaunâtres qui fusionnent pour former de grandes plaques localisées le plus souvent sur le cou, les aisselles, l'aine et les zones de flexion. La biopsie cutanée met en évidence une accumulation de fibres élastiques calcifiées et agglutinées dans le derme moyen. Parmi les facteurs sous-jacents rapportés figurent des antécédents de transplantation hépatique, une exposition à la pénicillamine ou une bêta-thalassémie concomitante."},"de":{"name":"Pseudoxanthoma elasticum, erworbenes","synonyms":["Groenblad-Strandberg-Syndrom, erworbenes","PXE, erworbene Form"],"definition":"Eine seltene erworbene Erkrankung des elastischen Hautgewebes, die durch klinische und histopathologische Anzeichen von Pseudoxanthoma elasticum gekennzeichnet ist, ohne dass es eine Familienanamnese oder eine spezifische Mutation gibt. Die Patienten zeigen überwiegend kutane Manifestationen, die aus gelblichen Papeln bestehen, die sich zu großen Plaques zusammenlagern und am häufigsten am Hals, in den Achselhöhlen, in der Leiste und an den Beugen lokalisiert sind. Die Hautbiopsie zeigt eine Anhäufung von verklumpten, verkalkten elastischen Fasern in der mittleren Dermis. Als zugrundeliegende Faktoren werden eine vorangegangene Lebertransplantation, die Einnahme von Penicillamin oder eine gleichzeitige Beta-Thalassämie genannt."},"es":{"name":"Pseudoxantoma elástico adquirido","synonyms":["PXE adquirido","Síndrome de Gronblad-Strandberg-Touraine adquirido"],"definition":"Es un trastorno adquirido y poco frecuente del tejido elástico de la dermis caracterizado por evidencias clínicas e histopatológicas de pseudoxantoma elástico en ausencia de antecedentes familiares o de una mutación específica. Los pacientes se presentan con manifestaciones predominantemente cutáneas consistentes en pápulas amarillas que confluyen en grandes placas y que se localizan con mayor frecuencia en el cuello, las axilas, las ingles y las áreas de flexión. La biopsia cutánea muestra acúmulos de fibras elásticas calcificadas y agrupadas en la dermis media. Los factores subyacentes descritos incluyen trasplante hepático previo, exposición a la penicilamina o beta-talasemia concomitante."},"it":{"name":"Pseudoxantoma elastico acquisito","synonyms":["PXE acquisito","Sindrome acquisita di Gronblad-Strandberg-Touraine"],"definition":"Si tratta di una malattia rara acquisita del tessuto elastico del derma, caratterizzata, dal punto di vista clinico e istopatologico, da pseudoxantoma elastico, in assenza di un'anamnesi familiare positiva o di una mutazione specifica. I pazienti presentano per lo più sintomi cutanei, che consistono in papule giallastre che convergono in grandi placche e si localizzano prevalentemente sul collo, sotto le ascelle, sull'inguine e sulle superfici flessorie. La biopsia della cute evidenzia accumuli di fibre elastiche calcificate e raggrumate nel derma medio. Tra i fattori che predispongono alla malattia si segnalano il pregresso trapianto di fegato, all'esposizione alla penicillamina o alla beta-talassemia."},"nl":{"name":"Verworven pseudoxanthoma elasticum","synonyms":["Verworven PXE","Verworven syndroom van Gronblad-Strandberg-Touraine"],"definition":"Een zeldzame, verworven aandoening van elastisch weefsel van dermis, gekenmerkt door klinisch en histopathologisch bewijs van pseudoxanthoma elasticum in afwezigheid van een familiegeschiedenis of specifieke mutatie. Patiënten vertonen hoofdzakelijk cutane manifestaties bestaande uit gelige papels die samenvloeien tot grote plaques, meestal gesitueerd in hals, oksels, liesstreek, en op oppervlakken aan buigzijde. Huidbiopsie toont accumulatie van geaggregeerde, verkalkte elastische vezels in de middendermis. Onderliggende factoren die werden gerapporteerd, zijn onder meer eerdere levertransplantatie, blootstelling aan penicillamine, of gelijktijdige bèta-thalassemie."},"pt":{"name":"Pseudoxantoma elástico adquirido"},"pl":{"name":"Nabyte kępki żółte rzekome","synonyms":["Nabyte PXE","Nabyty zespół Gronblada, Strandberga i Touraine'a"]},"cs":{"name":"Získané pseudoxanthoma elasticum","synonyms":["Získané PXE","Získaný Gronbladův-Strandbergův-Touraineův syndrom","Získaný Gronblad-Strandberg-Touraineův syndrom"]},"uk":{"name":"Набута псевдоксантома еластична","synonyms":["Набутий синдром Гронблада-Страндберга-Турена","Набутий PXE"],"definition":"A rare acquired dermis elastic tissue disorder characterized by clinical and histopathologic evidence of pseudoxanthoma elasticum in the absence of a family history or specific mutation. Patients present with predominantly cutaneous manifestations consisting of yellowish papules which coalesce into large plaques and are most commonly localized on the neck, axillae, groin, and flexural surfaces. Skin biopsy shows accumulation of clumped, calcified elastic fibers in the mid-dermis. Reported underlying factors include previous liver transplantation, exposure to penicillamine, or concomitant beta-thalassemia."},"zh":{"name":"获得性弹性假黄瘤","synonyms":["获得性Gronblad-Strandberg-Touraine综合征"]},"tr":{"name":"Edinsel psödoksantoma elastikum","synonyms":["Edinsel PXE","Edinsel Gronblad-Strandberg-Touraine sendromu"]}},"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":"2017339816"},{"source":"MONDO","code":"0016441","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1274759","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":228224,"name":"Acquired dermis elastic tissue disorder with increased elastic tissue","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}