{"orpha":330061,"name":"Actinic prurigo","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial polymorphous light eruption of American Indians","Hereditary polymorphous light eruption of American Indians","Hutchinson summer prurigo","Hydroa aestivale"],"definition":"A rare, chronic, photodermatosis disease characterized by intensely pruritic, polymorphic, erythematous, excoriated and/or lichenified papules, macules, plaques and nodules, occurring on sun-exposed areas of the skin (particularly face, nose, lips, and ears), frequently associating cheilitis (especially of the lower lip) and conjuctivitis, which are present year-round or only in the spring/summer (depending on geographic location), observed mainly in Native Americans and Mestizos. Cheilitis may be the sole clinical presentation. Histologically, the presence of lymphoid follicles in mucosa is pathognomonic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-330061/","orphanet_url":"https://www.orpha.net/en/disease/detail/330061","names":{"fr":{"name":"Prurigo actinique","synonyms":["Hydroa estival"],"definition":"Photodermatose chronique rare caractérisée par des papules, macules, plaques et nodules intensément prurigineux, polymorphes, érythémateux, excoriés et/ou lichénifiés, affectant les zones cutanées exposées au soleil (en particulier le visage, le nez, les lèvres et les oreilles), associant fréquemment une chéilite (surtout de la lèvre inférieure) et une conjonctivite, présents toute l'année ou, selon la localisation géographique, seulement au printemps/été, et observés principalement chez les Amérindiens et les métis. La chéilite peut être le seul signe clinique. Histologiquement, la présence de follicules lymphoïdes dans la muqueuse est pathognomonique."},"de":{"name":"Prurigo, aktinische","definition":"Eine seltene, chronische Photodermatose, die durch stark juckende, polymorphe, erythematöse, exkorierte und/oder lichenifizierte Papeln, Makeln, Plaques und Knötchen gekennzeichnet ist. Sie tritt an sonnenexponierten Hautstellen (insbesondere Gesicht, Nase, Lippen und Ohren) auf, häufig in Verbindung mit Cheilitis (insbesondere an der Unterlippe) und Konjunktivitis. Die Krankheit zeigt einen meist ganzjährigen Verlauf, das Auftreten kann jedoch in Abhängigkeit der geografischen Lage auch auf Frühjahr/Sommer beschränkt sein. Die aktinische Prurigo tritt gehäuft bei amerikanischen Ureinwohnern auf. Die Cheilitis kann die einzige klinische Erscheinung sein. Histologisch ist das Vorhandensein von lymphatischen Follikeln in der Schleimhaut pathognomonisch."},"es":{"name":"Prúrigo actínico","synonyms":["Erupción polimorfa lumínica familiar de los indios americanos","Erupción polimorfa lumínica hereditaria de los indios americanos","Hidroa estival","Prúrigo de verano de Hutchinson"],"definition":"Es una fotodermatosis crónica poco frecuente caracterizada por pápulas, máculas, placas y nódulos intensamente pruriginosos, polimórficos, eritematosos, excoriados y/o liquenificados, que aparecen en áreas de la piel expuestas al sol (particularmente en la cara, nariz, labios y oídos). Con frecuencia se asocia con queilitis (especialmente del labio inferior) y conjuntivitis, presentes durante todo el año o únicamente en primavera/verano (según la ubicación geográfica), observada principalmente en nativos americanos y mestizos. La queilitis puede ser la única presentación clínica. Histológicamente, la presencia de folículos linfoides en la mucosa es patognomónica."},"it":{"name":"Prurigo attinica","synonyms":["Eruzione polimorfa erditaria degli Indiani d'America indotta dalla luce","Eruzione polimorfa familiare degli Indiani d'America indotta dalla luce","Idroa estiva","Prurigo estiva di Hutchinson"],"definition":"È una fotodermatosi cronica rara, caratterizzata da papule, macule, placche e noduli molto pruriginosi, polimorfi, eritematosi, escoriati e/o lichenificati, localizzati sulle zone esposte al sole (in particolare il viso, il naso, le labbra e le orecchie), spesso associati a cheilite (soprattutto del labbro inferiore) e congiuntivite, presenti tutto l'anno oppure solo nel periodo primaverile/estivo (a seconda della regione geografica), che colpiscono prevalentemente i nativi americani e i meticci. In alcuni pazienti la cheilite è l'unico segno clinico. Gli esami istologici evidenziano, come segno patognomonico, la presenza di follicoli linfoidi nella mucosa."},"nl":{"name":"Actinische prurigo","synonyms":["Erfelijke polymorfe lichteruptie van Amerikaanse Indianen","Familiale polymorfe lichteruptie van Amerikaanse Indianen","Hydroa aestivale","Zomerprurigo van Hutchinson"],"definition":"Een zeldzame, chronische fotodermatose gekarakteriseerd door intens pruritische, polymorfe, erythemateuze, geëxcorieerde en/of gelichenificeerde papels, maculae, plaques en noduli die voorkomen op gebieden van de huid die zijn blootgesteld aan de zon (voornamelijk gelaat, neus, lippen, en oren). Frequent zijn cheilitis (voornamelijk van de onderlip) en conjunctivitis geassocieerd, die het hele jaar door of enkel in de lente/zomer aanwezig zijn (afhankelijk van de geografische locatie). De ziekte wordt voornamelijk bij Amerikaanse Indianen en mestiezen waargenomen. Cheilitis is mogelijk de enige klinische presentatie. Histologisch is de aanwezigheid van lymfoïde follikels in slijmvlies pathognomonisch."},"pt":{"name":"Prurigo actínico","synonyms":["Erupção cutânea polimorfa à luz familiar em Ameríndios","Erupção cutânea polimorfa à luz hereditária em Ameríndios","Hydroa aestivale","Prurigo de verão Hutchinson"]},"pl":{"name":"Świerzbiączka letnia","synonyms":["Dziedziczne wielopostaciowe osutki świetlne amerykańskich Indian","Rodzinne wielopostaciowe osutki świetlne amerykańskich Indian","Świerzbiączka letnia","Świerzbiączka letnia Hutchinsona","Świerzbiączka letnia guzkowa","Wielopostaciowe osutki świetlne"]},"cs":{"name":"Aktinické prurigo","synonyms":["Familial polymorphous light eruption of American Indians","Hereditary polymorphous light eruption of American Indians","Hutchinson summer prurigo","Hydroa aestivale"]},"uk":{"name":"Актинічне пруріго","synonyms":["Сімейна поліморфна світлова ерупція американських індіанців","Спадкова поліморфна світлова ерупція американських індіанців","Літній свербіж Хатчінсона","Гідроа естетична"],"definition":"A rare, chronic, photodermatosis disease characterized by intensely pruritic, polymorphic, erythematous, excoriated and/or lichenified papules, macules, plaques and nodules, occurring on sun-exposed areas of the skin (particularly face, nose, lips, and ears), frequently associating cheilitis (especially of the lower lip) and conjuctivitis, which are present year-round or only in the spring/summer (depending on geographic location), observed mainly in Native Americans and Mestizos. Cheilitis may be the sole clinical presentation. Histologically, the presence of lymphoid follicles in mucosa is pathognomonic."},"zh":{"name":"光化性痒疹","synonyms":["美洲印第安人遗传性多形性日光疹"],"definition":"一种罕见的慢性光性皮肤病，特征为剧烈瘙痒、多形性红斑、角化和/或苔藓化的丘疹、斑疹、斑块和结节，发生在皮肤的阳光照射区域（特别是面部、鼻子、嘴唇和耳朵），常伴有唇炎（特别是下唇）和结膜炎，全年或仅在春季/夏季出现（取决于地理位置），主要在美洲原住民和混血儿身上观察到。唇炎可能是唯一的临床表现。组织学上，粘膜中淋巴滤泡的存在具有病理学诊断意义。"},"tr":{"name":"Aktinik prurigo","synonyms":["Hydroa aestivale","Hutchinson yaz prurigosu","Amerikan yerlilerinin ailesel polimorf ışık erüpsiyonu","Amerika yerlilerinin kalıtsal polimorf ışık erüpsiyonu"]}},"xrefs":[{"source":"OMIM","code":"174770","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L56.4","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"EJ30.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1528164728"},{"source":"MONDO","code":"0008273","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566780","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406217","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10000616","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79390,"name":"Rare photodermatosis","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","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}