{"orpha":228240,"name":"Elastoderma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"An extremely rare, acquired, dermis elastic tissue disorder characterized by localized increased skin laxity associated with delayed skin recoil, typically occurring on the elbows, knees and/or neck. Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228240/","orphanet_url":"https://www.orpha.net/en/disease/detail/228240","names":{"fr":{"name":"Elastodermie","definition":"Anomalie acquise de l'élasticité du derme extrêmement rare, caractérisée par une hyperlaxité cutanée localisée, associée à un temps prolongé de retour à la forme initiale de la peau après étirement, se manifestant généralement au niveau des coudes, des genoux et/ou du cou. L'examen histologique met en évidence une abondance focale de tissu élastique dermique avec des fibres élastiques pléomorphes et fragmentées, sans calcification."},"de":{"name":"Elastoderma","definition":"Eine extrem seltene, erworbene Störung des elastischen Gewebes der Dermis, die durch eine lokal begrenzte erhöhte Hauterschlaffung in Verbindung mit einer verzögerten Hautrückbildung gekennzeichnet ist und typischerweise an den Ellenbogen, Knien und/oder am Hals auftritt. Histologisch wird eine fokale Abundanz des elastischen Gewebes in der Dermis mit pleomorphen und fragmentierten elastischen Fasern ohne Kalzifizierung beobachtet."},"es":{"name":"Elastodermia","definition":"Es un trastorno adquirido muy poco frecuente del tejido elástico de la dermis caracterizado por un aumento localizado de la laxitud cutánea asociado a un retroceso cutáneo tardío que ocurre típicamente en los codos, las rodillas y/o el cuello. Histológicamente, se observa abundancia focal de tejido elástico en la dermis, con fibras elásticas pleomórficas y fragmentadas sin calcificación."},"it":{"name":"Elastoderma","definition":"È una malattia acquisita molto rara del tessuto elastico del derma, caratterizzata da un aumento localizzato della lassità cutanea, che si associa ad un allungamento del tempo necessario a fare ritornare la cute in una condizione di normalità dopo uno stiramento, con prevalente interessamento dei gomiti, delle ginocchia e/o del collo. L'esame istologico evidenzia un'abbondanza focale di tessuto elastico nel derma con fibre elastiche pleomorfe e frammentate, in assenza di calcificazione."},"nl":{"name":"Elastoderma","definition":"Een uiterst zeldzame, verworven stoornis van het elastische weefsel van de dermis, gekarakteriseerd door lokaal verhoogde laxiteit van de huid die is geassocieerd met vertraagd terugveren van de huid en die doorgaans voorkomt aan de ellebogen, knieën en/of nek/hals. Histologisch wordt een focale overvloed aan elastisch weefsel waargenomen in de dermis, met pleomorfe en gefragmenteerde elastische vezels, zonder calcificatie."},"pt":{"name":"Elastoderma"},"pl":{"name":"Elastoderma"},"cs":{"name":"Elastoderma"},"uk":{"name":"Еластодермія","definition":"An extremely rare, acquired, dermis elastic tissue disorder characterized by localized increased skin laxity associated with delayed skin recoil, typically occurring on the elbows, knees and/or neck. Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed."},"zh":{"name":"真皮弹性蛋白累积症","definition":"一种极为罕见的获得性真皮弹性组织疾病，其特征是局部皮肤松弛加重，伴皮肤回弹延迟，通常出现在肘部、膝盖和/或颈部。组织学特征为真皮内可见弹性组织局灶性增多，伴多形与细碎的弹性纤维，无钙化。"},"tr":{"name":"Elastoderma"}},"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":"1880397739"},{"source":"MONDO","code":"0016439","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406555","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12716","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":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"25072684[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25072684[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-17","source":"22293849[PMID]_15243519[PMID]","terms":[{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100678","label":"Premature skin wrinkling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100963","label":"Hyperesthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001055","label":"Erysipelas","frequency":"Occasional (29-5%)","criteria":null}]}}