{"orpha":99710,"name":"Punctate acrokeratoderma freckle-like pigmentation","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99710/","orphanet_url":"https://www.orpha.net/en/disease/detail/99710","names":{"fr":{"name":"Pigmentation acrokératodermique ponctuée lentigineuse","definition":"Maladie rare de l'épiderme, caractérisée par l'association d'une acrokératodermie ponctuée et d'un trouble de la pigmentation. Les patients présentent des papules kératosiques de couleur chair sur les mains et les pieds, ainsi qu'une hyperkératose marquée sur la paume des mains et la plante des pieds. Une pigmentation lentigineuse est également rapportée sur la face dorsale des mains et des pieds. L'examen histologique ne révèle aucune fragmentation du tissu élastique du derme. Aucun cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Punktiertes Akrokeratoderm mit Sommersprossen-ähnlicher Pigmentierung","definition":"Eine seltene epidermale Erkrankung, bei der eine punktförmige Akrokeratodermie mit einer Pigmentstörung einhergeht. Die Patienten weisen hautfarbene keratotische Papeln an den Händen und Füßen sowie eine ausgeprägte Hyperkeratose an den Handflächen und Fußsohlen auf. Es wird auch über sommersprossenähnliche Pigmentierung auf den Dorsalflächen der Hände und Füße berichtet. Die histologische Untersuchung zeigt keine Fragmentierung des elastischen Hautgewebes. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Acroqueratodermia punteada con pigmentación similar a pecas","definition":"Es una enfermedad poco frecuente de la epidermis caracterizada por la asociación de acroqueratodermia punteada con un trastorno pigmentario. Los pacientes presentan pápulas queratósicas del color de la piel en las manos y en los pies y una hiperqueratosis pronunciada en las palmas y las plantas. También se ha descrito una pigmentación tipo pecas en la superficie dorsal de las manos y los pies. El examen histológico no revela fragmentación del tejido elástico de la dermis. No ha habido más descripciones en la literatura desde 1993."},"it":{"name":"Acrocheratodermia puntata con pigmentazione simile alle efelidi","definition":"Si tratta di una malattia rara dell'epidermide, caratterizzata da acrocheratoderma punteggiato associato ad anomalie della pigmentazione. I pazienti presentano papule cheratosiche dello stesso colore della cute, localizzate sulle mani e sui piedi, e una marcata ipercheratosi sul palmo delle mani e sulla pianta dei piedi. I pazienti possono presentare anche una pigmentazione simile a lentiggini sulla superficie dorsale delle mani e dei piedi. L'esame istologico non evidenzia alcuna frammentazione del tessuto elastico del derma. Non sono stati descritti nuovi casi dopo il 1993."},"nl":{"name":"Puntvormige acrokeratodermie met sproetachtige pigmentatie","definition":"Een zeldzame epidermale aandoening, gekarakteriseerd door de associatie van acrokeratoderma punctata met een pigmentafwijking. Patiënten vertonen huidskleurige keratotische papels op handen en voeten, en opvallende hyperkeratose van handpalmen en voetzolen. Sproetvorming pigmentatie op de dorsale oppervlakken van handen en voeten wordt ook gerapporteerd. Histologisch onderzoek toont geen fragmentatie van dermaal elastisch weefsel. Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Acroqueratodermia punctiforme pigmentação tipo sardas"},"pl":{"name":"Punktowa akrokeratodermia z pigmentacją o typie piegów"},"cs":{"name":"Punctate acrokeratoderma pigmentace podobná pihám"},"uk":{"name":"Точкова акрокератодермія веснянкоподібна пігментація","definition":"A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue. There have been no further descriptions in the literature since 1993."},"zh":{"name":"点状雀斑样色素沉着性肢端角化症"},"tr":{"name":"Noktalı akrokeratoderma çil benzeri pigmentasyon"}},"xrefs":[{"source":"ICD-10","code":"L85.8","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":"0036918","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681635","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79356,"name":"Acrokeratoderma","classifications":[187]},{"orpha":183441,"name":"Genetic acrokeratoderma","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"8338755[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8338755[PMID]"}],"phenotypes":null}