{"orpha":1336,"name":"Hyperkeratosis-hyperpigmentation syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1336/","orphanet_url":"https://www.orpha.net/en/disease/detail/1336","names":{"fr":{"name":"Syndrome d'hyperkératose-hyperpigmentation","definition":"Le syndrome d'hyperkératose-hyperpigmentation décrit une hyperpigmentation cutanée très rare principalement caractérisée par de petites taches hyperpigmentées affectant surtout la peau exposée au soleil, associées à une légère hyperkératose papuleuse palmoplantaire ponctuée. Il n'y a pas eu de description ultérieure dans la littérature depuis 1993."},"de":{"name":"Hyperkeratose-Hyperpigmentierung-Syndrom","definition":"Als Hyperkeratose-Hyperpigmentierung-Syndrom wird ein sehr seltenes Syndrom mit hyperpigmentierter Haut beschrieben. Charakteristisch sind sehr kleine hyperpigmentierte Flecken vor allem in sonnenexponierten Bereichen der Haut und, als hauptsächliches Symptom, eine leichte punktförmige palmoplantare Hyperkeratose. Weitere Fälle wurden seit 1993 nicht beschrieben."},"es":{"name":"Síndrome de hiperqueratosis-hiperpigmentación","definition":"El síndrome de hiperqueratosis - hiperpigmentación describe una hiperpigmentación muy rara en la piel y está caracterizado por pequeñas manchas hiperpigmentadas, principalmente en la piel expuesta a la luz solar, junto con leve hiperqueratosis palmoplantar punctata papilar como característica principal. No ha habido descripciones posteriores en la literatura desde 1993."},"it":{"name":"Ipercheratosi - iperpigmentazione","definition":"La sindrome ipercheratosi-iperpigmentazione è una forma molto rara di iperpigmentazione cutanea caratterizzata da piccolissime macchie iperpigmentate, per lo più presenti sulla cute esposta alla luce del sole, associate a lieve ipercheratosi palmoplantare papulosa puntata, che rappresenta un segno principale. Gli ultimi casi pubblicati risalgono al 1993."},"nl":{"name":"Hyperkeratose-hyperpigmentatie-syndroom","definition":"Hyperkeratose-hyperpigmentatie-syndroom beschrijft een zeer zeldzame hyperpigmentatie van de huid die wordt gekarakteriseerd door minuscule hypergepigmenteerde vlekken, voornamelijk op huid die is blootgesteld aan zonnelicht, in combinatie met milde gestippelde palmoplantaire papulaire hyperkeratose als voornaamste kenmerk. Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de hiperqueratose-hiperpigmentação"},"pl":{"name":"Zespół hiperkeratozy i hiperpigmentacji"},"cs":{"name":"Syndrom zahrnující hyperkeratózu a hyperpigmentace"},"uk":{"name":"Синдром гіперкератозу-гіперпігментації","definition":"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993."},"zh":{"name":"角化过度-色素沉着综合征"},"tr":{"name":"Hiperkeratoz-hiperpigmentasyon sendromu"}},"xrefs":[{"source":"OMIM","code":"144190","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","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":"0007757","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564172","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840428","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":308031,"name":"Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"151611[PMID]_8448904[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_151611[PMID]_8448904[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Frequent (79-30%)","criteria":null}]}}