{"orpha":39,"name":"Acromelanosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-39/","orphanet_url":"https://www.orpha.net/en/disease/detail/39","names":{"fr":{"name":"Acromélanose","definition":"Anomalie rare de la pigmentation cutanée caractérisée par une hyperpigmentation (par ailleurs asymptomatique) de la peau affectant la face dorsale des doigts et des orteils, qui peut s'étendre rapidement vers les zones proximales, notamment les parties génitales, l'abdomen et les cuisses. Elle est surtout observée chez les nouveau-nés ou au cours des premières années de vie."},"de":{"name":"Akromelanose","definition":"Eine seltene Pigmentierungsanomalie der Haut, die durch eine ansonsten asymptomatische Hyperpigmentierung der Haut auf der Dorsalseite von Fingern und Zehen gekennzeichnet ist, die sich schnell auf proximale Regionen wie Genitalien, Bauch und Oberschenkel ausweiten kann. Sie tritt meist bei Neugeborenen oder in den ersten Lebensjahren auf."},"es":{"name":"Acromelanosis","definition":"Es una anomalía poco frecuente de la pigmentación cutánea caracterizada por una hiperpigmentación asintomática de la piel en la cara dorsal de los dedos de las manos y los pies, que puede extenderse rápidamente hacia las regiones proximales, tales como los genitales, el abdomen y los muslos. Se observa mayoritariamente en neonatos o durante los primeros años de vida."},"it":{"name":"Acromelanosi","definition":"Si tratta di una rara anomalia della pigmentazione della cute, caratterizzata da iperpigmentazione asintomatica della cute del dorso delle dita delle mani e dei piedi, che può diffondersi rapidamente verso le porzioni prossimali, come i genitali, l'addome e le cosce. Si osserva per lo più nei neonati o nei primi anni di vita."},"nl":{"name":"Acromelanosis","definition":"Een zeldzame pigmentanomalie van huid, gekarakteriseerd door voor het overige asymptomatische hyperpigmentatie van de huid op de dorsale zijde van vingers en tenen, die snel kan verspreiden naar proximale regio's, zoals genitaliën, abdomen, en dijen. Het wordt meestal waargenomen bij neonaten of tijdens de eerste levensjaren."},"pt":{"name":"Acromelanose"},"pl":{"name":"Melanoza kończyn"},"cs":{"name":"Akromelanóza"},"uk":{"name":"Акромеланоз","definition":"A rare pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life."},"zh":{"name":"肢端黑变病"},"tr":{"name":"Akromelanoz"}},"xrefs":[{"source":"ICD-10","code":"L81.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"ED6Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018311","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406779","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4500","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}