{"orpha":178307,"name":"Reticulate acropigmentation of Kitamura","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RAK"],"definition":"A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178307/","orphanet_url":"https://www.orpha.net/en/disease/detail/178307","names":{"fr":{"name":"Acropigmentation réticulée de Kitamura","definition":"Hyperpigmentation cutanée génétique rare caractérisée par l'apparition, entre l'enfance et l'âge adulte, de lésions cutanées maculaires de couleur brune, réticulées, légèrement déprimées et nettement délimitées, sans hypopigmentation, affectant la face dorsale des mains et des pieds et évoluant dans certains cas vers les membres, le cou, le front et/ou le tronc. Des dermatoglyphes interrompus et des fosses palmoplantaires peuvent par ailleurs être observés. Sur le plan histologique, les lésions hyperpigmentées présentent des crêtes épidermiques rétrécies et allongées, une légère hyperkératose en l'absence de parakératose et d'incontinentia pigmenti."},"de":{"name":"Retikuläre Hyperpigmentierung vom Typ Kitamura","synonyms":["RAK"],"definition":"Eine seltene, genetisch bedingte Hyperpigmentierung der Haut, bei der im Kindes- bis Erwachsenenalter netzartige, leicht vertiefte, scharf begrenzte, braune, makulöse Hautläsionen ohne Hypopigmentierung auftreten, die die Dorsa der Hände und Füße betreffen und gelegentlich auf Gliedmaßen, Hals, Stirn und/oder Rumpf übergreifen. Zusätzlich können unterbrochene Dermatoglyphen und palmoplantare Grübchen beobachtet werden. Histologisch zeigen hyperpigmentierte Läsionen leicht verlängerte und verdünnte Rete-Kämme, milde Hyperkeratose ohne Parakeratose und das Fehlen von Incontinentia pigmenti."},"es":{"name":"Acropigmentación reticulada de Kitamura","synonyms":["RAK"],"definition":"Es una hiperpigmentación cutánea, de origen genético y poco frecuente, de aparicón entre la lactancia y la edad adulta, caracterizada por lesiones maculares, reticuladas, ligeramente deprimidas, claramente delimitadas, de color marrón y en ausencia de hipopigmentación que afectan al dorso de la mano y la planta de los pies y que, en ocasiones, progresan hasta afectar a las extremidades, el cuello, la frente y/o el tronco. Además, se pueden observar dermatoglifos interrumpidos y depresiones puntiformes palmoplantares. Histológicamente, las lesiones hiperpigmentadas muestran crestas epiteliales ligeramente alargadas y adelgazadas, leve hiperqueratosis sin paraqueratosis y ausencia de incontinencia pigmentaria."},"it":{"name":"Acropigmentazione reticolata di Kitamura","definition":"È una malattia genetica rara da iperpigmentazione cutanea, che esordisce tra l'infanzia e l'età adulta con lesioni cutanee maculari reticolate, leggermente infossate, nettamente delineate, di colore marrone, in assenza di ipopigmentazione, che interessano il dorso delle mani e dei piedi e, occasionalmente, progrediscono sugli arti, il collo, la fronte e/o il tronco. Può associarsi all'interruzione dei dermatoglifi e a fossette palmo-plantari. Dal punto di vista istologico, le lesioni iperpigmentate mostrano creste epiteliali leggermente allungate ed assottigliate, lieve ipercheratosi senza paracheratosi e assenza di incontinentia pigmenti."},"nl":{"name":"Reticulaire acropigmentatie van Kitamura","synonyms":["RAK"],"definition":"Een zeldzame, genetische hyperpigmentatie van huid, gekarakteriseerd door aanvang in de kindertijd tot volwassenheid van reticulaire, licht ingezonken, scherp begrensde, bruine, maculaire huidlaesies zonder hypopigmentatie op de rug van handen en voeten, en, occasioneel, met progressie naar ledematen, nek/hals, voorhoofd en/of romp. Bijkomend kunnen onderbroken dermatoglyfen en palmoplantaire kuiltjes waargenomen worden. Histologisch vertonen de gehyperpigmenteerde laesies enigszins verlengde en verdunde retelijsten, milde hyperkeratose zonder parakeratose, en afwezigheid van incontinentia pigmenti (pigmentincontinentie)."},"pt":{"name":"Acropigmentação reticulada de Kitamura"},"pl":{"name":"Siateczkowata akropigmentacja Kitamura","synonyms":["RAPK"]},"cs":{"name":"Acropigmentatio reticularis Kitamura","synonyms":["RAPK"]},"uk":{"name":"Ретикулярна акропігментація Кітамури","synonyms":["RAK"],"definition":"A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti."},"zh":{"name":"北村网状肢端色素沉着症","synonyms":["RAK"],"definition":"Kitamura型网状肢端色素沉着症是一种罕见的遗传性色素沉着性皮肤病，其主要临床表现为轻度凹陷、界限分明、无色素减退的黄斑性皮肤病，呈褐色网状，累及手背和足背，偶尔累及四肢、颈部、前额和/或躯干，还可表现为断续的皮肤纹理和掌跖凹点，儿童至成年期均可发病。病理学上，色素沉着病变表现为表皮突延长、变薄，轻度角化过度，不伴有角化不良和色素失调症。"},"tr":{"name":"Kitamura'nın ağsı akropigmentasyonu","synonyms":["RAK"]}},"xrefs":[{"source":"OMIM","code":"615537","qualifier":"E","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014234","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406811","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":"ADAM10","name":"ADAM metallopeptidase domain 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23666529[PMID]","hgnc":"188","ensembl":"ENSG00000137845","omim":"602192","loci":["15q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":130.0,"area":"Worldwide","status":"Validated","source":"23666529[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}