{"orpha":228254,"name":"Elastoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Juvenile elastoma without osteopoikilosis","Nevus elasticus","Weidman juvenile elastoma"],"definition":"A rare, genetic or acquired, dermis elastic tissue disorder characterized by asymptomatic, solitary or multiple, firm, skin-colored to yellowish papules or nodules of variable size that are disseminated or grouped in clusters and typically located on the trunk, buttocks, thighs or face, among others. Histologically, focal increase of thickened, tortuous elastic fibers in the reticular dermis, without signs of degeneration, is reported. Isolated cases, as well as cases associated with osteopoikilosis (Buschke-Ollendorf syndrome), may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228254/","orphanet_url":"https://www.orpha.net/en/disease/detail/228254","names":{"fr":{"name":"Elastome","synonyms":["Elastome juvénile de Weidman","Elastome juvénile sans ostéopoecilie","Elastome juvénile sans ostéopoïkilose","Naevus élastique"],"definition":"Anomalie rare, acquise ou génétique, de l'élasticité du derme caractérisée par des papules ou des nodules asymptomatiques, isolés ou multiples, fermes, de couleur chair à jaunâtre, de taille variable, disséminés ou en grappes, situés typiquement sur le tronc, les fesses, les cuisses ou le visage, entre autres. L'examen histologique fait ressortir une augmentation focale de fibres élastiques épaissies et tortueuses dans le derme réticulaire, sans signe de dégénérescence. Des cas isolés, ainsi que des cas associés à une ostéopoïkilose (syndrome de Buschke-Ollendorf), peuvent être observés."},"de":{"name":"Elastoma","synonyms":["Elastom, juveniles, Typ Weidman","Elastom, juveniles, ohne Osteopoikilose","Naevus elasticus"],"definition":"Eine seltene, genetisch bedingte oder erworbene Störung des elastischen Gewebes der Dermis, die durch asymptomatische, solitäre oder multiple, feste, hautfarbene bis gelbliche Papeln oder Knötchen unterschiedlicher Größe gekennzeichnet ist, die verstreut oder in Gruppen angeordnet sind und sich typischerweise u. a. am Rumpf, Gesäß, an den Oberschenkeln oder im Gesicht befinden. Histologisch wird eine fokale Zunahme verdickter, gewundener elastischer Fasern in der retikulären Dermis ohne Anzeichen einer Degeneration festgestellt. Es können sowohl Einzelfälle als auch Fälle in Verbindung mit Osteopoikilose (Buschke-Ollendorf-Syndrom) beobachtet werden."},"es":{"name":"Elastoma","synonyms":["Elastoma juvenil de Weidman","Elastoma juvenil sin osteopoiquilosis","Nevo elástico"],"definition":"Es un trastorno adquirido muy poco frecuente del tejido elástico de la dermis caracterizado por pápulas o nódulos del color de la piel a amarillentos, aislados o múltiples, asintomáticos y de tamaño variable que se desarrollan de forma diseminada o agrupada y que por lo general se localizan en el tronco, las nalgas, los muslos o la cara. Histológicamente se observa un incremento focal de fibras elásticas tortuosas engrosadas en la dermis reticular sin signos de degeneración. Se han descrito tanto casos aislados como asociados con osteopoiquilia (síndrome de Buschke-Ollendorf)."},"it":{"name":"Elastoma","synonyms":["Elastoma giovanile di Weidman","Elastoma giovanile senza osteopoichilosi","Nevo elastico"],"definition":"È una malattia rara del tessuto elastico del derma, acquisita o genetica, caratterizzata da noduli o papule asintomatiche, solitarie o multiple, solide, dello stesso colore della cute oppure giallastre, di dimensioni variabili, diffuse o raggruppate, di solito localizzate sul tronco, sulle natiche, sulle cosce o sul viso. L'esame istologico evidenzia un aumento focale di fibre elastiche tortuose ispessite nel derma reticolare, in assenza di degenerazione. La malattia può essere isolata, oppure associarsi ad osteopoichilosi (sindrome di Buschke-Ollendorf)."},"nl":{"name":"Elastoom","synonyms":["Juveniel elastoom zonder osteopoikilose","Naevus elasticus","Weidman juveniel elastoom"],"definition":"Een zeldzame, genetische of verworven stoornis van het elastische weefsel van de dermis, gekarakteriseerd door asymptomatische, solitaire of meervoudige, stevige, huidkleurige tot gelige papels of noduli met een variabele omvang die verspreid of gegroepeerd voorkomen, doorgaans op onder meer de romp, de billen, de dijen of het gelaat. Histologisch wordt een focale toename van verdikte, kronkelige elastische vezels waargenomen in de reticulaire dermis, zonder tekenen van degeneratie. Zowel geïsoleerde gevallen als gevallen geassocieerd met osteopoikilose (syndroom van Buschke-Ollendorf) kunnen waargenomen worden."},"pt":{"name":"Elastoma"},"pl":{"name":"Elastoma","synonyms":["Elastoma typu młodzieńczego bez ostepoikilii","Elastoma typu młodzieńczego Weidmana","Znamię elastyczne"]},"cs":{"name":"Elastom","synonyms":["Juvenilní elastom bez osteopoikilózy","Nevus elasticus","Weidmanův juvenilní elastom"]},"uk":{"name":"Еластома","synonyms":["Ювенільна еластома без остеопоїкілозу","Невус еластичний (Nevus elasticus)","Ювенільна еластома Вайдмана"],"definition":"A rare, genetic or acquired, dermis elastic tissue disorder characterized by asymptomatic, solitary or multiple, firm, skin-colored to yellowish papules or nodules of variable size that are disseminated or grouped in clusters and typically located on the trunk, buttocks, thighs or face, among others. Histologically, focal increase of thickened, tortuous elastic fibers in the reticular dermis, without signs of degeneration, is reported. Isolated cases, as well as cases associated with osteopoikilosis (Buschke-Ollendorf syndrome), may be observed."},"zh":{"name":"弹性组织瘤","synonyms":["青少年弹性瘤不伴脆弱性骨硬化"],"definition":"一种罕见的遗传性或后天性真皮弹性组织疾病，其特征是无症状、单发或多发、坚硬、肤色至淡黄色的丘疹或结节，大小不等，散布或聚集在一起，通常位于躯干、臀部、大腿或面部等部位。组织学特征为网状真皮局部增厚、弯曲的弹性纤维增多，无退化迹象。可以观察到孤立性病例以及与骨斑病（Buschke-Ollendorf综合征）相关的病例。"},"tr":{"name":"Elastom","synonyms":["Elastik nevüs","Weidman jüvenil elastom","Osteopoikiloz olmayan jüvenil elastom"]}},"xrefs":[{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LC2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1464650282"},{"source":"MONDO","code":"0016442","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0473583","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":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}