{"orpha":252031,"name":"Diffuse leptomeningeal melanocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DLM","Leptomeningeal melanomatosis"],"definition":"Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-252031/","orphanet_url":"https://www.orpha.net/en/disease/detail/252031","names":{"fr":{"name":"Mélanocytose leptoméningée diffuse","synonyms":["DLM","Mélanomatose leptoméningée"],"definition":"Tumeur rare des méninges provenant de mélanocytes leptoméningés, caractérisée par une infiltration diffuse des leptoméninges (arachnoïde et pie mère) dans le système nerveux central. Les caractéristiques cliniques peuvent inclure la mortinatalité, une hypertension intracrânienne et une hydrocéphalie, des convulsions, une ataxie, une syringomyélie, une paralysie des nerfs crâniens, une hémorragie intracrânienne, un dysfonctionnement du sphincter et des symptômes neuropsychiatriques. Des cas d'évolution vers un mélanome malin du système nerveux central ont été rapportés. Elle peut être associée à des naevus congénitaux, dans le cadre d'une mélanose neurocutanée."},"de":{"name":"Melanozytose, diffuse leptomeningeale","synonyms":["DLM","Melanomatose, leptomeningeale"]},"es":{"name":"Melanocitosis leptomeníngea difusa","synonyms":["DLM","Melanomatosis leptomeníngea"],"definition":"Es un tumor poco frecuente de meninges que se genera en los melanocitos leptomeníngeos. Está caracterizada por infiltración difusa de las leptomeninges (piamadre y aracnoides) en cualquier parte del sistema nervioso central. Las características clínicas pueden incluir muerte fetal, hipertensión intracraneal e hidrocefalia, convulsiones, ataxia, siringomielia, parálisis de nervios craneales, hemorragia intracraneal, disfunción esfinteriana y síntomas neuropsiquiátricos. Se ha descrito la transformación a melanoma maligno del sistema nervioso central. Puede estar asociado con nevos congénitos, como parte de la melanosis neurocutánea."},"it":{"name":"Melanocitosi diffusa delle leptomeningi","synonyms":["Melanomatosi leptomeningea","DLM"],"definition":"La melanocitosi diffusa delle leptomeningi è una neoplasia rara delle meningi, che origina dai melanociti leptomeningei. È caratterizzata dalla infiltrazione diffusa delle leptomeningi (pia madre ed aracnoide) in qualsiasi area del sistema nervoso centrale. I segni clinici comprendono la natimortalità, l'ipertensione intracranica, l'idrocefalo, le crisi epilettiche, l'atassia, la siringomielia, la paralisi dei nervi cranici, le emorragie intracraniche e i sintomi neuropsichiatrici. Può evolvere verso il melanoma maligno del sistema nervoso centrale. Può associarsi a nevi congeniti, nel contesto della melanosi neurocutanea."},"nl":{"name":"Diffuse leptomeningeale melanocytose","synonyms":["DLM","Leptomeningeale melanomatose"],"definition":"Diffuse leptomeningeale melanocytose is een zeldzame tumor van hersenvliezen die ontstaat uit leptomeningeale melanocyten, en die gekarakteriseerd wordt door diffuse infiltratie van de leptomeningen (pia mater en arachnoïdea) op eender welke plaats in het centrale zenuwstelsel. Mogelijke klinische kenmerken zijn onder meer doodgeboorte, intracraniële hypertensie en hydrocefalie, insulten, ataxie, syringomyelie, hersenzenuwverlammingen, intracraniële hemorragie, sfincterdisfunctie en neuropsychiatrische symptomen. Er werd transformatie naar maligne melanoom van het centrale zenuwstelsel gerapporteerd. Het kan geassocieerd zijn met congenitale naevi, als onderdeel van neurocutane melanose."},"pt":{"name":"Melanocitose leptomeníngea difusa","synonyms":["DLM","Melanomatose leptomeníngea"]},"pl":{"name":"Rozlana czerniakowatość opon mózgowych","synonyms":["DLM"],"definition":"*Rozlana czerniakowatość opon mózgowych jest rzadkim guzem opon mózgowych, wywodzącym się z melanocytów opony miękkiej. Charakteryzuje się rozlanym naciekaniem opon miękkich (opony miękkiej i pajęczynówki) w dowolnym miejscu w ośrodkowym układzie nerwowym. Może być przyczyną martwych urodzeń, powodować wzrost ciśnienia śródczaszkowego i wodogłowie, drgawki, ataksję, jamistość rdzenia, porażenie nerwów czaszkowcyh, krwotok śródczaszkowy, zaburzenia czynności zwieraczy i objawy neuropsychiatryczne. Opisywano transformację w czerniaka złośliwego ośrodkowego układu nerwowego. Może być związana z wrodzonymi znamionami, jako element melanozy nerwowo-skórnej."},"cs":{"name":"Difuzní leptomeningeální melanocytóza","synonyms":["DLM","Leptomeningeální melanomatóza"]},"uk":{"name":"Дифузний лептоменінгеальний меланоцитоз","synonyms":["DLM","Лептоменінгеальний меланоматоз"],"definition":"Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis."},"zh":{"name":"弥漫性软脑膜黑素细胞增多症","synonyms":["软脑膜黑色素瘤病"],"definition":"弥漫性软脑膜黑素细胞增生症是一种罕见的脑膜肿瘤，起源于软脑膜黑素细胞，其特征是软脑膜(软脑膜和蛛网膜)弥漫性浸润到中枢神经系统的任何地方。临床特征可能包括死产、颅内高压和脑积水、癫痫、共济失调、脊髓空洞症、颅神经麻痹、颅内出血、括约肌功能障碍和神经精神症状。有报道说该病可转变为中枢神经系统恶性黑色素瘤。它可能与先天性痣有关，是神经皮肤黑色素沉着症的一部分。"},"tr":{"name":"Yaygın leptomeninjiyal melanositoz","synonyms":["DLM","Leptomeningeal melanomatoz"]}},"xrefs":[{"source":"ICD-10","code":"C70.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A01.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016745","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749348","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":252028,"name":"Primary melanocytic tumor of central nervous system","classifications":[181,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}