{"orpha":280628,"name":"Familial progressive hyper- and hypopigmentation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FPHH"],"definition":"Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280628/","orphanet_url":"https://www.orpha.net/en/disease/detail/280628","names":{"fr":{"name":"Hyper- et hypopigmentation progressive familiale","synonyms":["FPHH"],"definition":"Un trouble génétique rare de la pigmentation cutanée, caractérisé par des lésions hyperpigmentées diffuses, progressives et partiellement tachetées, mélangées à de nombreuses taches café au lait et à des macules et lentigines hypopigmentés, au niveau du visage, du cou, du tronc et des membres, et recouvrant aussi souvent les paumes, les plantes de pied et la muqueuse buccale. Le schéma de dépigmentation est variable, pouvant aller de taches café au lait/hypopigmentées bien isolées sur un fond cutané normal, à un aspect en confetti ou moucheté."},"de":{"name":"Hyper- und Hypopigmentation, familiäre progressive","synonyms":["FPHH"],"definition":"Eine seltene, genetisch bedingte Anomalie der Hautpigmentierung, die durch fortschreitende, diffuse, teilweise fleckige, hyperpigmentierte Läsionen gekennzeichnet ist, die mit multiplen Café-au-lait-Flecken, hypopigmentierten Makulae und Lentigines vermischt sind und sich im Gesicht, am Hals, am Rumpf und an den Gliedmaßen sowie häufig auch an den Handflächen, Fußsohlen und der Mundschleimhaut befinden. Das Depigmentierungsmuster kann von gut isolierten Café-au-lait/hypopigmentierten Flecken auf einem Hintergrund normal aussehender Haut bis hin zu konfettiartigem oder gesprenkeltem Aussehen reichen."},"es":{"name":"Hiper- e hipopigmentación familiar progresiva","definition":"Es un trastorno genético y poco común de anomalías de la pigmentación de la piel, caracterizado por lesiones hiperpigmentadas progresivas, difusas, parcialmente manchadas , que se entremezclan con múltiples manchas café con leche, máculas hipopigmentadas y lentigos, localizadas en el rostro, cuello, tronco y extremidades, así como, con frecuencia, en las palmas de las manos, plantas de los pies y mucosa oral. El patrón de despigmentación puede variar desde un patrón de manchas café con leche aisladas, alternado con zonas de hipopigmentación sobre un fondo de piel con apariencia normal, hasta una apariencia moteada o ''en confeti''."},"it":{"name":"Iper- e ipopigmentazione progressiva familiare","synonyms":["FPHH"],"definition":"L'iper- e l'ipo-pigmentazione progressiva familiare è un'anomalia genetica rara della pigmentazione della cute. È caratterizzata da lesioni iperpigmentate diffuse, progressive, che si presentano come chiazze, frammiste a macchie caffè-latte, macule ipopigmentate e lentiggini; si localizzano sul volto, sul collo, sul tronco e sugli arti e, spesso, sul palmo delle mani, sulla pianta dei piedi e nella mucosa orale. La depigmentazione è variabile e può manifestarsi con macchie caffè-latte/ipopigmentate ben delimitate sullo sfondo di una cute peraltro normale, fino ad assumere un aspetto a coriandoli o a chiazze."},"nl":{"name":"Familiale progressieve hyper- en hypopigmentatie","synonyms":["FPHH"],"definition":"Familiale progressieve hyper- en hypopigmentatie is een zeldzame, genetische anomalie van de huidpigmentatie die gekarakteriseerd wordt door progressieve, diffuse, deels gevlekte, hypergepigmenteerde laesies gemengd met meerdere café-au-lait vlekken, hypogepigmenteerde maculae en lentigines, gesitueerd op het gelaat, de nek/hals, de romp en de ledematen, alsook, frequent, op handpalmen, voetzolen en wangslijmvlies. Het depigmentatiepatroon kan gaan van goed geïsoleerde café-au-lait/hypogepigmenteerde vlekken op een achtergrond van normaal uitziende huid tot een confetti-achtig of gevlekt voorkomen."},"pt":{"name":"Hiper- e hipopigmentação progressiva familiar","synonyms":["FPHH"]},"pl":{"name":"Rodzinna postępująca hiper- i hipopigmentacja","synonyms":["FPHH"]},"cs":{"name":"Familiární progresivní hyperpigmentace a hypopigmentace","synonyms":["FPHH"]},"uk":{"name":"Сімейна прогресуюча гіпер- та гіпопігментація","synonyms":["FPHH"],"definition":"Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance."},"zh":{"name":"家族性进行性色素过度沉着症","synonyms":["FPHH"],"definition":"家族性进行性皮肤色素沉着和减退症是一种罕见的遗传性皮肤色素异常，其特征是进行性，弥漫性，局部斑驳样色素沉着混杂多发性牛奶咖啡斑，黄斑色素减退和雀斑样痣，常位于面部，颈部，躯干和四肢，也常出现于手掌，脚掌和口腔粘膜。分布形式可位正常皮肤上出现孤立性牛奶咖啡斑/色素沉着，也可为斑驳样外观。"},"tr":{"name":"Ailesel ilerleyici hiper- ve hipopigmentasyon","synonyms":["FPHH"]}},"xrefs":[{"source":"OMIM","code":"145250","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1229773662"},{"source":"MONDO","code":"0017239","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706423","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183463,"name":"Genetic pigmentation anomaly of the skin","classifications":[156]},{"orpha":79374,"name":"Pigmentation anomaly of the skin","classifications":[187]}],"children":[],"genes":[{"symbol":"KITLG","name":"KIT ligand","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21368769[PMID]","hgnc":"6343","ensembl":"ENSG00000049130","omim":"184745","loci":["12q21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"21368769[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}