{"orpha":659,"name":"Mutilating palmoplantar keratoderma with periorificial keratotic plaques","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques","Olmsted syndrome","Palmoplantar and periorificial keratoderma"],"definition":"A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-659/","orphanet_url":"https://www.orpha.net/en/disease/detail/659","names":{"fr":{"name":"Kératodermie palmoplantaire mutilante avec plaques kératosiques péri-orificielles","synonyms":["Hyperkératose palmoplantaire mutilante avec plaques kératosiques péri-orificielles","Kératodermie palmoplantaire et péri-orificielle","Syndrome d'Olmsted"],"definition":"Kératodermie palmoplantaire (KPP) héréditaire caractérisée par la combinaison de KPP transgrédient mutilante bilatérale et de plaques kératosiques péri-orificielles."},"de":{"name":"Mutilierende Palmoplantarkeratose mit periorifiziellen keratotischen Plaques","synonyms":["Olmsted-Syndrom","Palmoplantare und periorifizielle Keratosen"],"definition":"Eine hereditäre Palmoplantarkeratose, die durch die Kombination von beidseitiger mutilierender transgredienter Palmoplantarkeratose und periorifiziellen keratotischen Plaques gekennzeichnet ist."},"es":{"name":"Queratodermia palmoplantar mutilante con placas queratósicas periorificiales","synonyms":["Hiperqueratosis palmoplantar mutilante con placas queratósicas periorificiales","Queratodermia palmoplantar y periorificial","Síndrome de Olmsted"],"definition":"Es una queratodermia palmoplantar hereditaria caracterizada por la combinación de queratodermia palmoplantar transgrediens bilateral mutilante y placas queratósicas periorificiales."},"it":{"name":"Cheratoderma palmoplantare mutilante con placche cheratosiche periorifiziali","synonyms":["Cheratoderma palmoplantare e periorifiziale","Ipercheratosi palmoplantare mutilante con placche cheratosiche periorifiziali","Sindrome di Olmsted"],"definition":"Il cheratoderma palmoplantare mutilante (PPK) con placche cheratosiche periorifiziali (noto anche come sindrome di Olmsted) è un cheratoderma palmoplantare ereditario, caratterizzato dall'associazione tra un cheratoderma palmoplantare mutilante transgrediente bilaterale e placche cheratosiche periorifiziali."},"nl":{"name":"Mutilerende palmoplantaire keratodermie met periorificiale keratotische plaques","synonyms":["Mutilerende hyperkeratose van handpalm of voetzool met periorificiale keratotische plaques","Mutilerende keratodermie van handpalm of voetzool met periorificiale keratotische plaques","Mutilerende palmoplantaire hyperkeratose met periorificiale keratotische plaques","Palmoplantaire en periorificiale keratodermie","Syndroom van Olmsted"],"definition":"Een erfelijke palmoplantaire keratodermie, gekenmerkt door de combinatie van bilaterale mutilerende keratoderma palmoplantaris transgrediens en periorificiale keratotische plaques."},"pt":{"name":"Queratodermia palmoplantar mutilante com placas queratóticas periorificiais","synonyms":["Síndrome Olmsted"]},"pl":{"name":"Okaleczający rogowiec dłoniowo-podeszwowy z płytkami rogowymi wokół naturalnych otworów ciała","synonyms":["Okaleczająca hiperkeratoza dłoniowo-podeszwowa z płytkami rogowymi wokół naturalnych otworów ciała","Rogowiec dłoniowo-podeszwowy i wokół naturalnych otworów ciała","Zespół Olmsteda"],"definition":"Dziedziczne rogowacenie dłoniowo-podeszwowe charakteryzujące się współwystępowaniem obustronnego okaleczającego transgradientnego rogowacenia dłoniowo-podeszwowego i rogowaciejących blaszek wokół naturalnych otworów ciała."},"cs":{"name":"Mutilující palmoplantární keratoderma s periorálními keratotickými plaky","synonyms":["Mutilující palmoplantární hyperkeratóza s periorálními keratotickými plaky","Palmoplantární a periorificiální keratoderma","Olmstedův syndrom"]},"uk":{"name":"Мутилююча долонно-підошвова кератодермія з періоральними кератичними бляшками","synonyms":["Калічачий долонно-підошовний гіперкератоз з періорбітальними кератичними бляшками","Синдром Ольмстеда","Пальмоплантарна та періоральна кератодермія"],"definition":"A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques."},"zh":{"name":"毁损性掌跖角化病伴口周围角化性斑块沉积","synonyms":["毁损性掌跖角化过度伴口周围角化性斑块沉积"]},"tr":{"name":"Periorifisyal keratotik plaklar ile seyreden kötürüm palmoplantar keratoderma","synonyms":["Olmsted sendromu","Palmoplantar ve periorifisyal keratoderma","Palmoplantar hiperkeratozun periorifisyal keratotik plaklarla parçalanması"]}},"xrefs":[{"source":"OMIM","code":"300918","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614594","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619208","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1627239379"},{"source":"MONDO","code":"0031421","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406761","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4075","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068842","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":307773,"name":"Autosomal dominant diffuse mutilating palmoplantar keratoderma","classifications":[156,187]}],"children":[],"genes":[{"symbol":"TRPV3","name":"transient receptor potential cation channel subfamily V member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"22405088[PMID]","hgnc":"18084","ensembl":"ENSG00000167723","omim":"607066","loci":["17p13.2"]},{"symbol":"MBTPS2","name":"membrane bound transcription factor peptidase, site 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22931912[PMID]","hgnc":"15455","ensembl":"ENSG00000012174","omim":"300294","loci":["Xp22.12"]},{"symbol":"PERP","name":"p53 apoptosis effector related to PMP22","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30321533[PMID]","hgnc":"17637","ensembl":"ENSG00000112378","omim":"609301","loci":["6q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable","X-linked recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":73.0,"area":"Worldwide","status":"Validated","source":"25886873[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-01-18","source":null,"terms":[{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000970","label":"Anhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031013","label":"Ankylosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007410","label":"Palmoplantar hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031057","label":"Skin fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011830","label":"Abnormal oral mucosa morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000168","label":"Abnormality of the gingiva","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000157","label":"Abnormality of the tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}