{"orpha":330058,"name":"Hydroa vacciniforme","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare photodermatosis characterized by the development of pruritic or painful vesicles in a photodistributed pattern in response to sunlight exposure. The lesions heal with permanent varioliform scarring. Ocular involvement, deformities of ears and nose, or contractures of the fingers may occasionally be observed. Systemic signs and symptoms are absent. The condition typically occurs in childhood and regresses spontaneously in adolescence or young adulthood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-330058/","orphanet_url":"https://www.orpha.net/en/disease/detail/330058","names":{"fr":{"name":"Hydroa vacciniforme","definition":"Photodermatose rare caractérisée par le développement de lésions prurigineuses ou douloureuses réparties selon les zones photoexposées du corps. Les lésions évoluent vers des cicatrices varioliformes. On observe par ailleurs une atteinte oculaire, des malformations des oreilles et du nez ou des contractures des doigts. Il n'existe pas de signes et symptômes systémiques. La maladie se manifeste généralement durant l'enfance et régresse spontanément à l'adolescence ou au début de l'âge adulte."},"de":{"name":"Hydroa vacciniforme","definition":"Eine seltene Photodermatose, bei der sich als Reaktion auf Sonneneinstrahlung juckende oder schmerzhafte Bläschen in einem photodistributiven Muster entwickeln. Die Läsionen heilen mit dauerhafter varioliformer Narbenbildung ab. Gelegentlich werden auch Augenbeteiligung, Fehlbildungen der Ohren und der Nase oder Kontrakturen der Finger beobachtet. Systemische Anzeichen und Symptome sind nicht vorhanden. Die Erkrankung tritt typischerweise in der Kindheit auf und bildet sich im Jugend- oder jungen Erwachsenenalter spontan zurück."},"es":{"name":"Hidroa vacciniforme","definition":"Es una fotodermatosis poco frecuente caracterizada por el desarrollo de unas vesículas pruriginosas o dolorosas siguiendo un patrón fotodistribuido en respuesta a la exposición a la luz solar. Las lesiones sanan dando lugar a cicatrices varioliformes permanentes. En ocasiones, puede observarse afectación ocular, deformidades de los pabellones auriculares y de la nariz o contracturas de los dedos. No presenta signos ni síntomas sistémicos. Por lo general, la entidad debuta en la infancia y remite espontáneamente en la adolescencia o en la edad adulta."},"it":{"name":"Idroa vacciniforme","definition":"Si tratta di una fotodermatosi rara, caratterizzata dalla comparsa di vescicole pruriginose o dolorose sulle zone del corpo esposte alla luce solare. Le lesioni guariscono lasciando cicatrici varioliformi permanenti. Occasionalmente i pazienti presentano un interessamento oculare, deformità delle orecchie e del naso, o contratture delle dita. La malattia non si associa a sintomi sistemici. Di solito si manifesta durante l'infanzia e regredisce spontaneamente nell'adolescenza o nella prima età adulta."},"nl":{"name":"Hydroa vacciniforme","definition":"Een zeldzame fotodermatose, gekarakteriseerd door ontwikkeling van pruritische of pijnlijke vesikels in een lichtafhankelijk patroon in reactie op blootstelling aan zonlicht. De laesies helen met permanente varioliforme littekenvorming. Betrokkenheid van oog, misvormingen van oor en neus, of contracturen van vingers kunnen soms waargenomen worden. Systemische verschijnselen en symptomen zijn afwezig De aandoening komt doorgaans voor in de kindertijd en vertoont spontane regressie in de adolescentie of jonge volwassenheid."},"pt":{"name":"Hidroa vaciniforme"},"pl":{"name":"Opryszczka ospówkowata"},"cs":{"name":"Hydroa vacciniforme"},"uk":{"name":"Hydroa vacciniforme","definition":"A rare photodermatosis characterized by the development of pruritic or painful vesicles in a photodistributed pattern in response to sunlight exposure. The lesions heal with permanent varioliform scarring. Ocular involvement, deformities of ears and nose, or contractures of the fingers may occasionally be observed. Systemic signs and symptoms are absent. The condition typically occurs in childhood and regresses spontaneously in adolescence or young adulthood."},"zh":{"name":"种痘样水疱病"},"tr":{"name":"Hidroa vaksiniforme"}},"xrefs":[{"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":"2053786485"},{"source":"MONDO","code":"0018024","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006837","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020241","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9654","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083442","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":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.34,"area":"United Kingdom","status":"Validated","source":"10642674[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-04-13","source":"30585497[PMID]_10642674[PMID]_3342168[PMID]_25209448[PMID]","terms":[{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0032381","label":"Hydroa vacciniforme","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0025300","label":"Malar rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033700","label":"Papulovesicular eruption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009926","label":"Epiphora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031541","label":"Linear C3 deposits along the epidermal basement membrane zone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033834","label":"Malaise","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025337","label":"Red eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031190","label":"Superficial dermal perivascular inflammatory infiltrate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010473","label":"Porphyrinuria","frequency":"Excluded (0%)","criteria":null}]}}