{"orpha":2611,"name":"Linear verrucous nevus syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Linear hamartoma syndrome"],"definition":"A rare skin disease characterized by a hamartomatous epidermal lesion presenting as a linear array of verrucous, hyperkeratotic papules that often coalesce into plaques and are formed along the lines of Blaschko. The condition is associated with involvement of other organ systems, mainly brain, eye, and skeletal system. It is the result of mosaic post-zygotic mutations and most commonly presents at birth, but may occur anytime during childhood, rarely also in adulthood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2611/","orphanet_url":"https://www.orpha.net/en/disease/detail/2611","names":{"fr":{"name":"Naevus verruqueux de forme linéaire","synonyms":["Hamartome de forme linéaire"],"definition":"Maladie rare de la peau caractérisée par une lésion épidermique hamartomateuse se présentant sous la forme d'un ensemble linéaire de papules verruqueuses et hyperkératosiques, qui fusionnent souvent pour former des plaques et qui sont disposées selon les lignes de Blaschko. La maladie est associée à l'atteinte d'autres organes, principalement le cerveau, les yeux et le système squelettique. Elle est le résultat de mutations en mosaïque postzygotiques et se manifeste le plus souvent à la naissance, mais peut survenir à n'importe quel moment au cours de l'enfance, et plus rarement à l'âge adulte."},"de":{"name":"Syndrom des linearen verrukösen Naevus","synonyms":["Lineares Hamartom-Syndrom"],"definition":"Eine seltene Hauterkrankung, die durch eine hamartomatöse epidermale Läsion gekennzeichnet ist, die sich als lineare Anordnung verruköser, hyperkeratotischer Papeln darstellt, die häufig zu Plaques zusammenwachsen und sich entlang der Blaschko-Linien bilden. Die Erkrankung geht mit einer Beteiligung anderer Organsysteme einher, vor allem des Gehirns, der Augen und des Skelettsystems. Sie ist das Ergebnis mosaikartiger postzygotischer Mutationen und tritt am häufigsten bei der Geburt auf, kann aber jederzeit in der Kindheit und selten auch im Erwachsenenalter auftreten."},"es":{"name":"Síndrome de nevo epidérmico verrugoso lineal","synonyms":["Síndrome de hamartoma lineal"],"definition":"Es una enfermedad poco frecuente de la piel caracterizada por una lesión epidérmica hamartomatosa que se presenta como un conjunto lineal de pápulas hiperqueratósicas verrugosas que a menudo se fusionan en placas localizadas a lo largo de las líneas de Blaschko. La afección se asocia a alteraciones de otros sistemas de órganos, principalmente el cerebro, los ojos y el sistema esquelético. Es el resultado de mutaciones poscigóticas en mosaico y se presenta con mayor frecuencia al nacimiento, aunque puede ocurrir en cualquier momento durante la infancia y, ocasionalmente, en la edad adulta."},"it":{"name":"Sindrome del nevo verrucoso lineare","synonyms":["Amartoma lineare"],"definition":"Si tratta di una malattia rara della cute, caratterizzata da una lesione epidermica amartomatosa che si presenta con una serie lineare di papule verrucose ipercheratosiche, che spesso confluiscono in placche, localizzate lungo le linee di Blaschko. La malattia interessa anche altri organi, in particolare il cervello, gli occhi e lo scheletro. È causata da mutazioni post-zigotiche in mosaico. Di solito esordisce alla nascita, ma può manifestarsi anche durante l'infanzia e, di rado, nell'età adulta."},"nl":{"name":"Lineaire verruceuze naevus-syndroom","synonyms":["Lineair hamartoom-syndroom"],"definition":"Een zeldzame aandoening van huid, gekenmerkt door een hamartomateuze epidermale laesie die zich presenteert als lineair gerangschikte verruceuze, hyperkeratotische papels die vaak samenvloeien tot plaques en gevormd worden langs lijnen van Blaschko. De aandoening is geassocieerd met betrokkenheid van andere orgaansystemen, vooral hersenen, oog, en skelet. Het wordt veroorzaakt door mozaïsche postzygotische mutaties, en presenteert zich doorgaans bij de geboorte, maar kan op elk moment tijdens de kindertijd optreden, en in zeldzame gevallen ook in de volwassenheid."},"pt":{"name":"Síndrome de nevo verrucoso linear","synonyms":["Síndrome de hamartoma linear"],"definition":"Doença cutânea rara caracterizada por uma lesão epidérmica hamartomatosa que surge com uma distribuição linear de pápulas verrucosas e hiperqueratóticas que frequentemente coalescem em placas ao longo das linhas de Blaschko. A doença está associada ao envolvimento de outros sistemas de órgãos, principalmente cérebro, olhos e sistema esquelético. É o resultado de mutações pós-zigóticas em mosaico e habitualmente apresenta-se ao nascimento, mas pode ocorrer a qualquer momento durante a infância, e raramente também na idade adulta."},"pl":{"name":"Zespół linijnego znamienia brodawkowatego","synonyms":["Zespół linijnego harmatoma"]},"cs":{"name":"Syndrom lineárního verukosního névu","synonyms":["Syndrom lineárního hamartomu"]},"uk":{"name":"Синдром лінійного веррукозного невусу","synonyms":["Синдром лінійної гамартоми"],"definition":"A rare skin disease characterized by a hamartomatous epidermal lesion presenting as a linear array of verrucous, hyperkeratotic papules that often coalesce into plaques and are formed along the lines of Blaschko. The condition is associated with involvement of other organ systems, mainly brain, eye, and skeletal system. It is the result of mosaic post-zygotic mutations and most commonly presents at birth, but may occur anytime during childhood, rarely also in adulthood."},"zh":{"name":"线状疣状痣综合征","synonyms":["线状疣状痣综合征"]},"tr":{"name":"Doğrusal verrüköz nevüs sendromu","synonyms":["Doğrusal hamartoma sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q82.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC00.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016831","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679838","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3259","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[{"orpha":79468,"name":"Acanthokeratolytic verrucous nevus","type":"Clinical subtype"},{"orpha":79466,"name":"Inflammatory linear verrucous epidermal nevus","type":"Clinical subtype"},{"orpha":79467,"name":"Verrucous nevus","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009592","label":"Astrocytoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100006","label":"Neoplasm of the central nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012500","label":"Verrucous papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000481","label":"Abnormal cornea morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008060","label":"Aplasia/Hypoplasia of the fovea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002816","label":"Genu recurvatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}