{"orpha":1659,"name":"Dermatoleukodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cutis laxa-leukodystrophy"],"definition":"A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1659/","orphanet_url":"https://www.orpha.net/en/disease/detail/1659","names":{"fr":{"name":"Dermatoleucodystrophie","synonyms":["Cutis laxa-leucodystrophie"],"definition":"Leucodystrophie rare caractérisée par un épaississement congénital de la peau, présentant des rides et une perte d'élasticité. Elle est associée à l'apparition progressive, au cours de l'enfance, de troubles cognitifs et moteurs qui se généralisent rapidement entraînant un état végétatif et un décès précoce. L'examen neuropathologique révèle une leucodystrophie neuroaxonale, ainsi que de nombreux sphéroïdes neuroaxonaux et une perte diffuse des axones et des gaines de myéline."},"de":{"name":"Dermatoleukodystrophie","synonyms":["Cutis laxa-Leukodystrophie"],"definition":"Eine Leukodystrophie mit kongenitaler Verdickung, Faltenbildung und Elastizitätsverlust der Haut, verbunden mit einer im Kindesalter beginnenden, rasch fortschreitenden generalisierten kognitiven und motorischen Beeinträchtigung, die rasch zum vegetativen Status und zum vorzeitigen Tod führt. Die neuropathologische Untersuchung zeigt eine neuroaxonale Leukodystrophie mit zahlreichen neuroaxonalen Sphäroiden und einem diffusen Verlust von Axonen und Myelinscheiden."},"es":{"name":"Dermatoleucodistrofia","synonyms":["Cutis laxa-leucodistrofia"],"definition":"Es una leucodistrofia poco frecuente caracterizada por piel engrosada y arrugada de origen congénito que muestra pérdida de elasticidad, en combinación con la aparición en la infancia de alteraciones cognitivas y motoras generalizadas rápidamente progresivas que evolucionan a estado vegetativo y muerte temprana. El examen neuropatológico revela leucodistrofia neuroaxonal con numerosos esferoides neuroaxonales y pérdida difusa de axones y vainas de mielina."},"it":{"name":"Dermatoleucodistrofia","definition":"Si tratta di una leucodistrofia rara, caratterizzata dall'ispessimento e da raggrinzamento congenito della cute, con perdita dell'elasticità, associata a deficit cognitivi e motori generalizzati ad esordio infantile e a progressione rapida, che esitano rapidamente in uno stato vegetativo e nella morte precoce. L'esame neuropatologico rivela una leucodistrofia neuroassonale con numerosi sferoidi neuroassonali e la perdita diffusa degli assoni e delle guaine mieliniche."},"nl":{"name":"Dermatoleukodystrofie","synonyms":["Cutis laxa-leukodystrofie"],"definition":"Een zeldzame leukodystrofie, gekarakteriseerd door congenitaal verdikte, gerimpelde huid met verlies van elasticiteit, in combinatie met in de kindertijd aanvangende, snel progressieve gegeneraliseerde cognitieve en motorische beperkingen die al snel resulteren in vegetatieve toestand en vroeg overlijden. Neuropathologisch onderzoek toont neuroaxonale leukodystrofie met talrijke neuroaxonale sferoïden en diffuus verlies van axonen en myelinescheden."},"pt":{"name":"Dermatoleucodistrofia"},"pl":{"name":"Dermatoleukodystrofia","synonyms":["Cutis laxa-leukodystrophy"]},"cs":{"name":"Dermatoleukodystrofie","synonyms":["Cutis laxa-leukodystrophy"]},"uk":{"name":"Дерматолейкодистрофія","synonyms":["лейкодистрофія Cutis laxa"],"definition":"A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths."},"zh":{"name":"皮肤脑白质营养不良","synonyms":["皮肤松弛-脑白质营养不良"]},"tr":{"name":"Dermatolökodistrofi","synonyms":["Kutis laksa-lökodistrofi"]}},"xrefs":[{"source":"OMIM","code":"221790","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009093","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538220","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857314","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1813","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":228215,"name":"Genetic dermis elastic tissue disorder","classifications":[156,187]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"655904[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_655904[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null}]}}