{"orpha":79146,"name":"Familial progressive hyperpigmentation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Melanosis diffusa congenita","Melanosis universalis hereditaria","Universal melanosis"],"definition":"Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjunctiva. No hypopigmentation macules are observed and no systemic diseases are associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79146/","orphanet_url":"https://www.orpha.net/en/disease/detail/79146","names":{"fr":{"name":"Hyperpigmentation progressive familiale","synonyms":["Mélanose diffuse congénitale","Mélanose universelle","Mélanose universelle héréditaire"],"definition":"Une anomalie génétique rare de la pigmentation cutanée. Elle se caractérise par des plaques cutanées hyperpigmentées irrégulières présentes à la naissance ou pendant la petite enfance. Avec l'âge, la taille des taches et leur nombre augmente, et elles deviennent confluentes. Les régions du corps touchées incluent le visage, le cou, le tronc et les membres, ainsi que les paumes, les plantes de pied, la muqueuse buccale et la conjonctive. Il n'y a pas de macules hypopigmentées, ni de maladie systémique associée."},"de":{"name":"Hyperpigmentierung, familiäre progressive","synonyms":["Melanose, universelle","Melanosis diffusa congenita","Melanosis unversalis hereditaria"],"definition":"Die familiäre progressive Hyperpigmentierung ist eine seltene, genetisch bedingte Anomalie der Hautpigmentierung, die durch unregelmäßige Flecken hyperpigmentierter Haut gekennzeichnet ist, die bei der Geburt oder im frühen Säuglingsalter auftreten und mit dem Alter an Größe, Anzahl und Konfluenz zunehmen. Zu den betroffenen Körperregionen gehören das Gesicht, der Hals, der Rumpf und die Gliedmaßen sowie die Handflächen, Fußsohlen, die Mundschleimhaut und die Bindehaut. Es werden keine hypopigmentierten Flecken beobachtet und es sind keine systemischen Erkrankungen assoziiert."},"es":{"name":"Hiperpigmentación familiar progresiva","synonyms":["Melanosis difusa congénita","Melanosis universal","Melanosis universal hereditaria","Melanosis universalis hereditaria"],"definition":"Es un trastorno genético de anomalías de la pigmentación de la piel poco frecuente, caracterizado por parches irregulares de piel hiperpigmentada presentes al nacimiento o en la infancia temprana y que aumentan en tamaño, número y confluencia con la edad. Las áreas del cuerpo afectadas incluyen el rostro, cuello, tronco y extremidades, así como las palmas de las manos, las plantas de los pies, la mucosa oral y la conjuntiva. No se observan máculas hipogmentadas ni se asocian enfermedades sistémicas."},"it":{"name":"Iperpigmentazione familiare progressiva","synonyms":["Melanosi diffusa congenita","Melanosi universale","Melanosi universale ereditaria"],"definition":"L'iperpigmentazione familiare progressiva è un'anomalia genetica rara della pigmentazione della cute, caratterizzata da chiazze irregolari di iperpigmentazione cutanea, che esordiscono alla nascita o nel periodo neonatale, che, con l'età, tendono ad aumentare di dimensioni e numero e a confluire. Le chiazze si localizzano sul viso, sul collo, sul tronco, sugli arti, sul palmo delle mani e la pianta dei piedi, sulla mucosa orale e sulla congiuntiva. Non si associano aree ipopigmentate, e neppure malattie sistemiche."},"nl":{"name":"Familiale progressieve hyperpigmentatie","synonyms":["Melanosis diffusa congenita","Melanosis universalis hereditaria","Universele melanose"],"definition":"Familiale progressieve hyperpigmentatie is een zeldzame, genetische stoornis van de huidpigmentatie die gekarakteriseerd wordt door onregelmatige plekken met hypergepigmenteerde huid die verschijnen bij de geboorte of in de vroege zuigelingentijd, en die met de leeftijd toenemen in omvang en aantal, en samenvloeien. Getroffen gebieden van het lichaam zijn onder meer het gelaat, de nek/hals, de romp en de ledematen, alsook de handpalmen, voetzolen, wangslijmvlies en bindvlies. Er worden geen hypogepigmenteerde maculae waargenomen, en er zijn geen systemische aandoeningen geassocieerd."},"pt":{"name":"Hiperpigmentação progressiva familiar","synonyms":["Melanose difusa congénita","Melanose universal","Melanosis universalis hereditária"]},"pl":{"name":"Rodzinna postępująca hiperpigmentacja","synonyms":["Dziedziczna melanoza uogólniona","Universal melanosis","Wrodzona melanoza rozsiana"]},"cs":{"name":"Familiární progresivní hyperpigmentace","synonyms":["Melanosis diffusa congenita","Melanosis universalis hereditaria","Univerzální melanóza"]},"uk":{"name":"Сімейна прогресуюча гіперпігментація","synonyms":["Вроджений дифузний меланоз","Спадковий універсальний меланоз","Універсальний меланоз"],"definition":"Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated."},"zh":{"name":"家族性进行性色素沉着","synonyms":["遗传性泛发性黑变病"]},"tr":{"name":"Ailesel ilerleyici hiperpigmentasyon","synonyms":["Evrensel melanoz","Melanoz diffusa konjenita","Melanosis universalis hereditaria"]}},"xrefs":[{"source":"OMIM","code":"145250","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614233","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L81.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1808730427"},{"source":"MONDO","code":"0013648","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564163","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840392","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":"KITLG","name":"KIT ligand","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"19375057[PMID]","hgnc":"6343","ensembl":"ENSG00000049130","omim":"184745","loci":["12q21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}