{"orpha":79148,"name":"Elastosis perforans serpiginosa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79148/","orphanet_url":"https://www.orpha.net/en/disease/detail/79148","names":{"fr":{"name":"Elastosis perforans serpiginosa","definition":"Anomalie acquise de l'élasticité du derme avec excès de tissus élastiques, caractérisée par une élastose dermique focale et une élimination transépidermique des fibres élastiques anormales, se présentant sous forme de petites papules ou plaques kératosiques groupées, serpigineuses ou annulaires, affectant le cou, le visage et les bras, les autres zones étant moins fréquemment touchées. Bien que la régression spontanée soit possible, les lésions persistent souvent sur de longues périodes. La maladie survient généralement pendant l'enfance ou au début de l'âge adulte et touche plus souvent les hommes que les femmes."},"de":{"name":"Elastosis perforans serpiginosa","definition":"Eine seltene erworbene Störung des elastischen Gewebes der Dermis mit vermehrtem elastischem Gewebe, die durch fokale dermale Elastose und transepidermale Eliminierung abnormaler elastischer Fasern gekennzeichnet ist und sich in Form kleiner keratotischer Papeln oder Plaques zeigt, die gruppenweise in serpiginösen oder ringförmigen Mustern an Hals, Gesicht und Armen angeordnet sind, während andere Bereiche seltener betroffen sind. Obwohl eine spontane Rückbildung möglich ist, persistieren die Läsionen oft über längere Zeiträume. Die Erkrankung tritt typischerweise in der Kindheit oder im frühen Erwachsenenalter auf und ist bei Männern häufiger als bei Frauen."},"es":{"name":"Elastosis perforans serpiginosa","definition":"Es un trastorno adquirido y poco frecuente de las fibras elásticas de la dermis, caracterizado por una elastosis dérmica focal y la eliminación transepidérmica de fibras elásticas anómalas, presentándose como pequeñas pápulas o placas queratósicas agrupadas siguiendo un patrón serpiginoso o anular en el cuello, la cara y los brazos, mientras que otras áreas se ven afectadas con menor frecuencia. Aunque la remisión espontánea es posible, las lesiones suelen persistir durante períodos prolongados de tiempo. El trastorno ocurre típicamente durante la infancia o la edad adulta temprana y es más frecuente en varones que en mujeres."},"it":{"name":"Elastosi serpiginosa perforante","definition":"Si tratta di una malattia rara acquisita del derma che presenta un eccesso di tessuto elastico, che configura una elastosi dermica focale con eliminazione transepidermica delle fibre elastiche anomale. La malattia esordisce con piccole papule o placche cheratosiche raggruppate, serpiginose o anulari, localizzate sul collo, sul viso e sulle braccia e, più raramente, su altre aree del corpo. Sebbene sia possibile una regressione spontanea, spesso le lesioni permangono per lunghi periodi. Di solito la malattia esordisce nell'infanzia o nella prima età adulta, e colpisce maggiormente i maschi."},"nl":{"name":"Elastosis perforans serpiginosa","definition":"Een zeldzame, verworven aandoening van elastisch weefsel van de dermis met toename van elastisch weefsel, gekarakteriseerd door focale dermale elastose en transepidermale eliminatie van abnormale elastische vezels, wat zich presenteert als kleine keratotische papels of plaques die zijn gerangschikt in groepen volgens kronkelende of ringvormige patronen op nek, aangezicht en armen, terwijl andere gebieden minder frequent worden aangetast. Hoewel spontane regressie mogelijk is, houden de laesies vaak langere tijd aan. De aandoening komt doorgaans voor tijdens de kindertijd of vroege volwassenheid en komt vaker voor bij mannen dan bij vrouwen."},"pt":{"name":"Elastose perfurante serpiginosa"},"pl":{"name":"Elastosis perforans serpiginosa"},"cs":{"name":"Elastosis perforans serpiginosa"},"uk":{"name":"Перфоративний серпігінозний еластоз","definition":"A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women."},"zh":{"name":"匐行穿孔性弹性组织变性"},"tr":{"name":"Elastosis perforans serpiginosa"}},"xrefs":[{"source":"OMIM","code":"130100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1430012917"},{"source":"MONDO","code":"0007529","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536202","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221271","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10103","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10014338","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":[],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27881947[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-28","source":"24648695[PMID]_27881947[PMID]","terms":[{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045059","label":"Hyperkeratotic papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025528","label":"Annular cutaneous lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025527","label":"Serpiginous cutaneous lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025512","label":"Skin-colored papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007473","label":"Crusting erythematous dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025092","label":"Epidermal acanthosis","frequency":"Occasional (29-5%)","criteria":null}]}}