{"orpha":228227,"name":"Late-onset focal dermal elastosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PXE-like late-onset focal dermal elastosis","Pseudoxanthoma-like late-onset focal dermal elastosis"],"definition":"Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228227/","orphanet_url":"https://www.orpha.net/en/disease/detail/228227","names":{"fr":{"name":"Elastose dermique focale tardive","synonyms":["Elastose dermique focale tardive type PXE","Elastose dermique focale tardive type pseudoxanthome"],"definition":"Anomalie acquise et rare de l'élasticité du derme caractérisée par une éruption papulaire de type pseudoxanthome élastique consistant en de multiples papules non folliculaires, asymptomatiques, lentement progressives, de 2 à 5 mm, blanchâtres à jaunâtres (formant progressivement des plaques d'aspect pavimentaire), réparties principalement sur le cou, les aisselles et les zones de flexion, sans atteinte systémique. La biopsie cutanée révèle une augmentation du nombre de foyers de tissu élastique d'apparence normale dans le derme réticulaire, sans dépôt de calcium."},"de":{"name":"Elastose, dermale fokale, spät-beginnende","synonyms":["PXE-ähnliche fokal-dermale Elastose"]},"es":{"name":"Elastosis dérmica focal de inicio tardío","synonyms":["Elastosis dérmica focal tipo PXE de inicio tardío","Elastosis dérmica focal tipo pseudoxantoma de inicio tardío"],"definition":"Es un trastorno de la dermis, adquirido y poco frecuente, caracterizado por una erupción papular similar al pseudoxantoma elástico compuesta por unas pápulas no foliculares múltiples, de progresión lenta, asintomáticas, de 2 a 5 mm de tamaño, y de un color blanco a amarillento (que tienden a formar placas de aspecto adoquinado), distribuidas predominantemente por el cuello, las axilas y las áreas de flexión, sin afectación sistémica. La biopsia cutánea revela un aumento focal de tejido elástico de apariencia normal en la dermis reticular sin depósitos de calcio."},"it":{"name":"Elastosi dermica focale ad esordio tardivo","synonyms":["Elastosi dermica focale PXE-simile a esordio tardivo","Elastosi dermica focale pseudoxantoma-simile a esordio tardivo"],"definition":"L'elastosi dermica focale ad esordio tardivo è una malattia acquisita rara del tessuto elastico del derma, caratterizzata da un'eruzione papulare che ricorda lo pseudoxantoma elastico, con papule non follicolari multiple asintomatiche a progressione lenta, delle dimensioni di 2-5 mm, di colore bianco-giallastro (che tendono a convergere in placche dall'aspetto acciottolato), distribuite per lo più sul collo, alle ascelle e sulle aree flessorie, senza interessamento sistemico. La biopsia della cute evidenzia un aumento focale del tessuto elastico dall'aspetto normale nel derma reticolare, in assenza di depositi di calcio."},"nl":{"name":"Focale dermale elastose met late aanvang","synonyms":["PXE-achtige focale dermale elastose met late aanvang","Pseudoxanthoom-achtige focale dermale elastose met late aanvang"],"definition":"Focale dermale elastose met late aanvang is een zeldzame, verworven stoornis van elastisch weefsel in de dermis, en wordt gekarakteriseerd door een pseudoxanthoma elasticum-achtige papulaire eruptie bestaande uit multipele, traag progressieve, asymptomatische, 2-5 mm grote, witte tot gelige, niet-folliculaire papels (met een neiging tot vorming van keivormige plaques) die voornamelijk verdeeld zijn over de nek/hals, oksels en buigzijde van gewrichten, zonder systemische betrokkenheid. Biopsie van de huid toont een focale toename van normaal uitziend elastisch weefsel in de reticulaire laag van de lederhuid zonder afzettingen van calcium."},"pt":{"name":"Elastose dérmica focal de início tardio"},"pl":{"name":"Ogniskowa elastoza skóry o późnym początku","synonyms":["PXE-like late-onset focal dermal elastosis","Pseudoxanthoma-like late-onset focal dermal elastosis"],"definition":"*Ogniskowa elastoza skórna o późnym początku jest rzadką, nabytą chorobą tkanki sprężystej skóry właściwej, która charakteryzuje się wysypką grudkową, podobną do pseudoxanthoma (kępki żółte rzekome), składającą się z licznych, wolno rosnących, nie dających objawów grudek niezawierających pęcherzyków, o barwie od białej do żółtawej (które wykazują tendencję to tworzenia okrągłych płytek), które rozmieszczone są głównie na szyi, pod pachami i w miejscu zgięć, bez zajęcia innych układów. W biopsji skóry widoczny jest ogniskowy wzrost prawidłowo wyglądającej tkanki sprężystej w warstwie siateczkowej skóry właściwej, bez złogów wapnia."},"cs":{"name":"Pozdní fokální dermální elastóza","synonyms":["Pozdní fokální dermální elastóza podobná PXE","Pozdní fokální dermální elastóza podobná pseudoxanthoma"]},"uk":{"name":"Пізній вогнищевий дермальний еластоз","synonyms":["Псевдоксантомоподібний пізній вогнищевий фокальний еластоз шкіри","PXE-подібний пізній фокальний дермальний еластоз"],"definition":"Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits."},"zh":{"name":"迟发性局灶性皮肤弹性组织变性","synonyms":["假黄瘤样迟发性局灶性皮肤弹性组织变性"],"definition":"迟发性皮肤弹性组织局灶变性是一种罕见的获得性真皮弹性组织疾病，其特征是弹性假黄瘤样丘疹，由多发的、缓慢进展的、无症状、2-5毫米、白色至黄色、非滤泡性丘疹（倾向于形成鹅卵石样斑块）组成，主要分布于颈部、腋窝和屈曲区域，没有全身性受累。皮肤活检显示真皮网状组织中正常弹性组织局灶性增加，无钙沉积。"},"tr":{"name":"Geç başlangıçlı fokal dermal elastoz","synonyms":["PXE-benzeri geç başlangıçlı fokal dermal elastoz","Psödoksantoma-benzeri geç-başlangıçlı fokal dermal elastoz"]}},"xrefs":[{"source":"ICD-10","code":"L98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE41.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016437","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751167","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":5.0,"area":"Worldwide","status":"Validated","source":"15670180[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15670180[PMID]"}],"phenotypes":null}