{"orpha":2678,"name":"Familial isolated café-au-lait macules","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CALs syndrome isolated","Familial CALMs isolated","Familial isolated CALSs","Familial isolated café-au-lait spots","Multiple isolated café-au-lait spots","Multiple isolated café-au-lait syndrome"],"definition":"A rare hyperpigmentation of the skin characterized by the presence of several café-au-lait macules without any other manifestations of neurofibromatosis or any other systemic disorder. The macules may appear in infancy, but usually they are detected after 2 years of age. Hyperpigmented lesions may have smooth or irregular borders. Their size vary from a few millimeters to more than 10 cm.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2678/","orphanet_url":"https://www.orpha.net/en/disease/detail/2678","names":{"fr":{"name":"Maladie des tâches café-au-lait isolées","synonyms":["Maladie des taches café-au-lait isolées"],"definition":"La neurofibromatose de type 6 (NF6), ou maladie des taches café au lait, est une maladie cutanée caractérisée par la présence de plusieurs macules café au lait (CAL) sans autres manifestations de neurofibromatose ou d'une autre maladie systémique."},"de":{"name":"Café-au-lait-Flecken, familiäre isolierte","synonyms":["CALF, familiäre isolierte","CALF-Syndrom, isoliertes","Familiäres Café-au-lait-Flecken-Syndrom","Multiple isolierte Café-au-lait-Flecken"],"definition":"Eine seltene Hyperpigmentierung der Haut, die durch das Vorhandensein multipler Café-au-lait-Flecken gekennzeichnet ist, ohne dass Manifestationen einer Neurofibromatose oder einer anderen systemischen Störung vorliegen. Die Flecken können bereits im Säuglingsalter auftreten, werden aber in der Regel erst im Alter von 2 Jahren entdeckt. Die hyperpigmentierten Läsionen können glatte oder unregelmäßige Ränder haben. Ihre Größe variiert von einigen Millimetern bis zu mehr als 10 cm."},"es":{"name":"Máculas café con leche aisladas familiares","synonyms":["Manchas café con leche aisladas familiares","Múltiples manchas café con leche aisladas","Síndrome aislado de múltiples manchas café con leche"],"definition":"Es una hiperpigmentación de la piel poco frecuente caracterizada por la presencia de varias máculas color café con leche sin ninguna otra manifestación de neurofibromatosis ni ningún otro trastorno sistémico. Las máculas pueden aparecer en la infancia, pero normalmente se detectan después de los 2 años de edad. Las lesiones hiperpigmentadas pueden tener bordes lisos o irregulares. Su tamaño varía desde unos pocos milímetros hasta más de 10 cm."},"it":{"name":"Macchie caffè-latte isolate familiari","synonyms":["Macchie caffè-latte isolate multiple","Sindrome CALS isolate","Sindrome da macchie caffè-latte isolate multiple","CALM isolata familiare","CALS isolate familiari","Macchie caffè-latte isolate familiari"]},"nl":{"name":"Familiale geïsoleerde café-au-lait maculae","synonyms":["CALS-syndroom, geïsoleerd","Familiale CALMs, geïsoleerd","Familiale CALSs, geïsoleerd","Familiale geïsoleerde café-au-lait vlekken","Meervoudige geïsoleerde café-au-lait vlekken","Multipele geïsoleerde café-au-lait-syndroom"],"definition":"Een zeldzame hyperpigmentatie van huid, gekenmerkt door de aanwezigheid van ernstige café-au-lait maculae zonder enige andere manifestaties van neurofibromatose of enige andere systemische aandoening. De maculae kunnen in de zuigelingentijd verschijnen, maar worden meestal gedetecteerd na de leeftijd van twee jaar. Hypergepigmenteerde laesies kunnen gladde of onregelmatige randen hebben. Hun omvang varieert van enkele millimeters tot meer dan 10 cm."},"pt":{"name":"Máculas café-com-leite isoladas familiar","synonyms":["CAL's isoladas familiar","CALMs isolada familiar","Manchas café-com-leite isoladas familiar","Manchas café-com-leite múltiplas isoladas","Síndrome CALs isolada","Síndrome de manchas café-com-leite isoladas múltiplas"],"definition":"A neurofibromatose tipo 6 (NF6), também designado síndrome das manchas café-com-leite, é uma doença cutânea caracterizada pela presença de várias máculas café-com-leite (CAL) sem qualquer outra manifestação de neurofibromatose ou qualquer outra doença sistémica."},"pl":{"name":"Rodzinnie występujące izolowane plamy cafe-au-lait","synonyms":["Mnogie plamy typu \"kawa z mlekiem","NF6","Rodzinne plamy typu \"kawa z mlekiem","Zespół mnogich plam typu \"kawa z mlekiem","Rodzinne izolowane plamy café-au-lait"],"definition":"Rzadka hiperpigmentacja skóry charakteryzująca się obecnością kilku plam o typie „kawy z mlekiem” bez żadnych innych objawów neurofibromatozy lub innych zaburzeń układowych. Plamki mogą pojawić się w okresie niemowlęcym, ale zwykle są wykrywane po 2 roku życia. Zmiany hiperpigmentacyjne mogą mieć gładkie lub nieregularne granice. Ich wielkość waha się od kilku milimetrów do ponad 10 cm."},"cs":{"name":"Neurofibromatóza, typ 6","synonyms":["Familiární skvrny café-au-lait","NF6","Mnohočetné café-au-lait skvrny","Mnohočetný café-au-lait syndrom"]},"uk":{"name":"Сімейні ізольовані макули кольору кави з молоком","synonyms":["Синдром CALs ізольований","Сімейний синдром CALs ізольований","Сімейні ізольовані кавові плями","Сімейні ізольовані CALSs","Множинні ізольовані кавові плями","Множинні ізольовані синдром кавових плям"],"definition":"Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder."},"zh":{"name":"神经纤维瘤病6型","synonyms":["多发性咖啡斑综合征"]},"tr":{"name":"Nörofibromatoz tip 6","synonyms":["NF6","Ailesel café-au-lait noktaları","çoklu café-au-lait noktaları","çoklu café-au-lait sendromu"]}},"xrefs":[{"source":"OMIM","code":"114030","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L81.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EC23.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2112681823"},{"source":"UMLS","code":"C1861975","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3967","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]}],"children":[],"genes":[{"symbol":"LZTR1","name":"leucine zipper like post translational regulator 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39140257[PMID]","hgnc":"6742","ensembl":"ENSG00000099949","omim":"600574","loci":["22q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Occasional (29-5%)","criteria":null}]}}