{"orpha":497737,"name":"Epidermolytic nevus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Epidermal nevus with epidermolytic hyperkeratosis","Epidermolytic epidermal nevus","Epidermolytic verrucous epidermal nevus"],"definition":"A rare nevus characterized by single or multiple non-inflammatory verrucous skin lesions composed of keratinocytes, often present from birth, and distributed along the lines of Blaschko. Histologically, the lesions show features of epidermolytic hyperkeratosis with perinuclear vacuolization of keratinocytes of the upper epidermis with coarse keratohyaline granules. There is no extra-cutaneous involvement. Affected individuals are at risk of parenting a child with bullous ichthyosiform erythroderma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-497737/","orphanet_url":"https://www.orpha.net/en/disease/detail/497737","names":{"fr":{"name":"Naevus épidermolytique","synonyms":["Nævus verruqueux épidermolytique"],"definition":"Nævus rare caractérisé par des lésions cutanées verruqueuses non inflammatoires, isolées ou multiples, souvent présentes dès la naissance, composées de kératinocytes et réparties le long des lignes de Blaschko. Sur le plan histologique, les lésions présentent un aspect d'hyperkératose épidermolytique avec une vacuolisation périnucléaire des kératinocytes de l'épiderme supérieur, et d'épaisses granules de kératohyaline. Aucune atteinte extra-cutanée n'est observée. Les patients sont à risque de transmettre une érythrodermie ichtyosiforme bulleuse à leurs enfants."},"de":{"name":"Naevus, epidermolytischer","synonyms":["Epidermalnävus mit epidermolytischer Hyperkeratose","Epidermalävus, epidermolytischer","Epidermolytischer Epidermalnävus","Epidermolytischer verruköser Epidermalnävus"],"definition":"Ein seltener Naevus, der durch einzelne oder mehrere nicht entzündliche, verruköse Hautläsionen gekennzeichnet ist, die aus Keratinozyten bestehen, oft von Geburt an vorhanden sind und entlang der Blaschko-Linien verteilt sind. Histologisch zeigen die Läsionen Merkmale einer epidermolytischen Hyperkeratose mit perinukleärer Vakuolisierung von Keratinozyten der oberen Epidermis mit groben keratohyalinen Granula. Es gibt keine extrakutane Beteiligung. Bei den betroffenen Personen besteht das Risiko, dass sie ein Kind mit bullöser ichthyosiformer Erythrodermie zur Welt bringen."},"es":{"name":"Nevo epidermolítico","synonyms":["Nevo epidérmico con hiperqueratosis epidermolítica","Nevo epidérmico epidermolítico","Nevo epidérmico verrugoso epidermolítico","Nevus epidérmico epidermolítico"],"definition":"Es un nevo poco frecuente caracterizado por lesiones cutáneas verrugosas no inflamatorias múltiples o aisladas compuestas por queratinocitos, que a menudo están presentes desde el nacimiento, siguiendo las líneas de Blaschko. Histológicamente, las lesiones muestran características de hiperqueratosis epidermolítica con vacuolización perinuclear de los queratinocitos de la epidermis superior con gránulos queratohialinos grandes. No se ha descrito la afectación extracutánea. Las personas afectas presentan un mayor riesgo de tener descendencia con eritrodermia ictiosiforme ampollosa."},"it":{"name":"Nevo epidermolitico","definition":"Si tratta di un nevo raro, caratterizzato da lesioni cutanee verrucose non infiammatorie, singole o multiple, composte da cheratinociti, spesso congenite e distribuite lungo le linee di Blaschko. Dal punto di vista istologico, le lesioni presentano le caratteristiche dell'ipercheratosi epidermolitica con vacuolizzazione perinucleare dei cheratinociti dell'epidermide superiore con granuli cheratoialini grossolani. Non si osservano lesioni extracutanee. I figli dei genitori affetti possono presentare un eritroderma ittiosiforme bolloso."},"nl":{"name":"Epidermolytische naevus","synonyms":["Epidermale naevus met epidermolytische hyperkeratose","Epidermolytische epidermale naevus","Epidermolytische verruceuze epidermale naevus"],"definition":"Een zeldzame naevus, gekarakteriseerd door enkel- of meervoudige niet-inflammatoire verruceuze huidlaesies bestaande uit keratinocyten, vaak aanwezig vanaf de geboorte, en met een distributie langs de lijnen van Blaschko. Histologisch vertonen de laesies kenmerken van epidermolytische hyperkeratose, zoals perinucleaire vacuolisatie van keratinocyten van bovenste epidermis met grove keratohyaliene granulen. Naast de huid zijn geen andere organen betrokken. Getroffen individuen lopen risico een kind te krijgen met bulleuze ichthyosiforme erytrodermie."},"pt":{"name":"Nevo epidermolítico"},"pl":{"name":"Znamię epidermolityczne","synonyms":["Znamię epidermolityczne naskórkowe","Znamię epidermolityczne naskórkowe brodawkowate","Znamię naskórkowe z epidermolitycznym nadmiernym rogowaceniem"]},"cs":{"name":"Epidermolytický névus","synonyms":["Epidermal nevus with epidermolytic hyperkeratosis","Epidermolytic epidermal nevus","Epidermolytic verrucous epidermal nevus"]},"uk":{"name":"Епідермолітичний невус","synonyms":["Епідермальний невус з епідермолітичним гіперкератозом","Епідермолітичний епідермальний невус","Епідермолітичний веррукозний епідермальний невус"],"definition":"A rare nevus characterized by single or multiple non-inflammatory verrucous skin lesions composed of keratinocytes, often present from birth, and distributed along the lines of Blaschko. Histologically, the lesions show features of epidermolytic hyperkeratosis with perinuclear vacuolization of keratinocytes of the upper epidermis with coarse keratohyaline granules. There is no extra-cutaneous involvement. Affected individuals are at risk of parenting a child with bullous ichthyosiform erythroderma."},"zh":{"name":"表皮松解色素痣","synonyms":["表皮色素痣伴表皮松解型角化过度症"]},"tr":{"name":"Epidermolitik nevüs","synonyms":["Epidermolitik epidermal nevüs","Epidermolitik verrüköz epidermal nevüs","Epidermolitik hiperkeratoz ile seyreden epidermal nevüs"]}},"xrefs":[{"source":"ICD-10","code":"Q82.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC00.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"498542696"},{"source":"MONDO","code":"0044656","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1302848","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281103,"name":"Keratinopathic ichthyosis","classifications":[156,187]},{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":100.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}