{"orpha":626,"name":"Large/giant congenital melanocytic nevus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LGCMN","Large/giant CMN syndrome","Large/giant congenital pigmented nevus"],"definition":"A rare skin hamartoma characterized by at least one pigmented skin lesion present at birth of more than 20 cm (large congenital melanocytic nevus; LCMN) or 40 cm (giant; GCMN) projected adult diameter. The primary lesion is composed of mutated melanocytes and often locally disorganized epidermal annexes or dermis, and presents with an elevated risk of malignant transformation to melanoma or, more rarely, other neoplasms in skin or central nervous system.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-626/","orphanet_url":"https://www.orpha.net/en/disease/detail/626","names":{"fr":{"name":"Naevus pigmentaire congénital grand/géant","synonyms":["Naevus grand/géant congénital"],"definition":"Hamartome rare de la peau caractérisé par au moins une lésion cutanée pigmentée présente à la naissance et dont le diamètre prévisible à l'âge adulte est supérieur à 20 cm (naevus mélanocytaire congénital de grande taille) ou à 40 cm (géant). La lésion primaire est composée de mélanocytes mutés et d'annexes épidermiques ou dermiques souvent désorganisées localement, et présente un risque élevé de transformation maligne en mélanome ou, plus rarement, en d'autres tumeurs de la peau ou du système nerveux central."},"de":{"name":"Großer/riesiger kongenitaler melanozytärer Naevus","synonyms":["Kongenitaler Riesenpigmentnaevus","LGCMN"],"definition":"Ein seltenes Haut-Hamartom, das durch mindestens eine pigmentierte Hautläsion gekennzeichnet ist, die bei der Geburt vorhanden ist und im Erwachsenenalter einen projizierten Durchmesser von mehr als 20 cm (großer kongenitaler melanozytärer Nävus; LCMN) oder 40 cm (riesiger; GCMN) aufweist. Die primäre Läsion besteht aus mutierten Melanozyten und oft lokal desorganisierten epidermalen Anhängen oder der Dermis und weist ein erhöhtes Risiko einer malignen Transformation in ein Melanom oder, seltener, in andere Neoplasien der Haut oder des zentralen Nervensystems auf."},"es":{"name":"Nevo melanocítico congénito grande/gigante","synonyms":["LGCMN","Nevo pigmentado congénito grande/gigante","Síndrome de NMC grande/gigante"],"definition":"Es un hamartoma cutáneo poco frecuente caracterizado por al menos una lesión cutánea pigmentada, presente al nacimiento, de más de 20 cm (nevo melanocítico congénito de gran tamaño o grande; NMC grande) o 40 cm (NMC gigante) de diámetro proyectado al tamaño en un paciente adulto. La lesión primaria está formada por melanocitos mutados y, a menudo, por una dermis o unos anexos epidérmicos localmente desorganizados. Es una lesión con un riesgo elevado de transformación maligna a melanoma o, menos frecuentemente, a otras neoplasias cutáneas o del sistema nervioso central."},"it":{"name":"Nevo melanocitico congenito grande/gigante","synonyms":["GMN","LCMN","LGCMN","Sindrome CMN grande/gigante","Nevo pigmentato congenito grande/gigante"]},"nl":{"name":"Grote/reuze congenitale melanocytaire naevus","synonyms":["Grote/reuze CMN-syndroom","Grote/reuze congenitale gepigmenteerde naevus","LGCMN"],"definition":"Een zeldzaam hamartoom van huid, gekenmerkt door minstens één gepigmenteerde huidlaesie die aanwezig is bij de geboorte en die een voorspelde volwassen diameter heeft van meer dan 20 cm (grote congenitale melanocytaire naevus; LCMN) of meer dan 40 cm (reuze congenitale melanocytaire naevus; GCMN). De primaire laesie bestaat uit gemuteerde melanocyten en vaak lokaal gedesorganiseerde huidaanhangsels of dermis, en vertoont een verhoogd risico op maligne transformatie naar melanoom of, in zeldzamere gevallen, naar andere neoplasmata in huid of centraal zenuwstelsel."},"pt":{"name":"Nevo melanocítico congénito grande/gigante","synonyms":["LGCMN","Nevo pigmentado congénito grande/gigante","Síndrome CMN grande/gigante"],"definition":"Hamartoma cutâneo raro caracterizado por pelo menos uma lesão cutânea pigmentada presente ao nascimento com mais de 20 cm (nevo melanocítico congénito grande; NMCGr) ou 40 cm (gigante; NMCG) de diâmetro projetado na idade adulta. A lesão primária é composta por melanócitos mutados e, frequentemente, anexos epidérmicos ou derme localmente desorganizados e apresenta um risco elevado de transformação maligna em melanoma ou, mais raramente, outras neoplasias na pele ou no sistema nervoso central."},"pl":{"name":"Duże wrodzone znamię barwnikowe","synonyms":["GMN","LCMN","Olbrzymie wrodzone owłosione znamię barwnikowe","Olbrzymie wrodzone znamię barwnikowe","Wrodzone znamię barwnikowe"]},"cs":{"name":"Vrozený obrovský melanocytární névus","synonyms":["Vrozený pigmentový névus","GMN","Obrovský vrozený melanocytární névus","Obrovský pigmentový vlasový névus","LCMN"]},"uk":{"name":"Великий вроджений меланоцитарний невус","synonyms":["Вроджений пігментний невус","Гігантський вроджений меланоцитарний невус","Гігантський пігментний волохатий невус","GMN","LCMN"],"definition":"A rare skin hamartoma characterized by at least one pigmented skin lesion present at birth of more than 20 cm (large congenital melanocytic nevus; LCMN) or 40 cm (giant; GCMN) projected adult diameter. The primary lesion is composed of mutated melanocytes and often locally disorganized epidermal annexes or dermis, and presents with an elevated risk of malignant transformation to melanoma or, more rarely, other neoplasms in skin or central nervous system."},"zh":{"name":"巨大先天性黑色素细胞痣","synonyms":["巨大先天性黑色素细胞痣"]},"tr":{"name":"Büyük doğumsal melanositik nevüs","synonyms":["GMN","LCMN","Doğumsal pigmentli nevüs","Dev pigmentli tüylü nevüs","Dev doğumsal melanositik nevüs"]}},"xrefs":[{"source":"OMIM","code":"137550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D22.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F20.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"618273329"},{"source":"MONDO","code":"0044792","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842036","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2469","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072036","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[],"genes":[{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"17301836[PMID]_18633438[PMID]_25490715[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"]},{"symbol":"NRAS","name":"NRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23392294[PMID]_24129063[PMID]","hgnc":"7989","ensembl":"ENSG00000213281","omim":"164790","loci":["1p13.2"]},{"symbol":"ALK","name":"ALK receptor tyrosine kinase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"30359577[PMID]","hgnc":"427","ensembl":"ENSG00000171094","omim":"105590","loci":["2p23.2-p23.1"]},{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"30792255[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"]},{"symbol":"RAF1","name":"Raf-1 proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"30359577[PMID]","hgnc":"9829","ensembl":"ENSG00000132155","omim":"164760","loci":["3p25.2"]},{"symbol":"SOX5","name":"SRY-box transcription factor 5","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"30359577[PMID]","hgnc":"11201","ensembl":"ENSG00000134532","omim":"604975","loci":["12p12.1"]},{"symbol":"ZEB2","name":"zinc finger E-box binding homeobox 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"30359577[PMID]","hgnc":"14881","ensembl":"ENSG00000169554","omim":"605802","loci":["2q22.3"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.75,"area":"Europe","status":"Validated","source":"21139903[PMID]_[EXPERT]_ ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-05-28","source":"34845496[PMID]_PNDS 2021[OTHER]","terms":[{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005600","label":"Congenital giant melanocytic nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003764","label":"Nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000970","label":"Anhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012056","label":"Cutaneous melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004912","label":"Hypophosphatemic rickets","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010314","label":"Premature thelarche","frequency":"Very rare (<4-1%)","criteria":null}]}}