{"orpha":494,"name":"Keratoderma hereditarium mutilans","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mutilating keratoderma of Vohwinkel","Mutilating keratoderma plus deafness","Mutilating keratoderma plus hearing loss","PPK mutilans and deafness","PPK mutilans and hearing loss","Vohwinkel syndrome"],"definition":"Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-494/","orphanet_url":"https://www.orpha.net/en/disease/detail/494","names":{"fr":{"name":"Kératodermie aïnhumoïde et mutilante","synonyms":["KPP mutilante et surdité","Kératodermie mutilante de Vohwinkel","Kératodermie mutilante et surdité","PPK mutilans et surdité","Syndrome de Vohwinkel"],"definition":"Kératodermie palmoplantaire héréditaire rare, diffuse et mutilante, caractérisée par une kératose palmoplantaire sévère dont l'aspect rappelle celui des rayons de miel et par un pseudo-aïnhum des doigts entraînant leur auto-amputation, associés à une surdité neurosensorielle congénitale légère à modérée. Les autres manifestations comprennent une kératose en forme d'étoile au niveau des muscles extenseurs des doigts, des pieds, des coudes et des genoux. Une alopécie, une onychogryphose, une dystrophie unguéale ou un hippocratisme digital, une paraplégie spastique et une myopathie peuvent également être associés."},"de":{"name":"Keratoderma hereditarium mutilans","synonyms":["PPK mutilans - Schwerhörigkeit","PPK mutilans Vohwinkel","Palmoplantarhyperkeratose Typ mutilans Vohwinkel","Vohwinkel-Syndrom"]},"es":{"name":"Queratodermia hereditaria mutilante","synonyms":["PPK mutilante e hipoacusia","PPK mutilante y sordera","Queratodermia mutilante de Vohwinkel","Queratodermia mutilante más hipoacusia","Queratodermia mutilante más sordera","Síndrome de Vohwinkel"],"definition":"Es un trastorno de queratodermia palmoplantar mutilante, difuso, hereditario y poco frecuente, caracterizado por una queratosis palmoplantar grave en forma de panal y unos anillos constrictivos de los dedos que conducen a la auto-amputación, asociada con una pérdida auditiva neurosensorial congénita de leve a moderada. Otras características adicionales incluyen la queratosis estrellada en las superficies extensoras de los dedos de las manos, los pies, los codos y las rodillas. También se puede asociar alopecia, onicogrifosis, distrofia ungueal o uñas hipocráticas, paraparesia espástica y miopatía."},"it":{"name":"Cheratoderma mutilante ereditario","synonyms":["Cheratoderma mutilante di Vohwinkel","Cheratoderma mutilante e sordità","PPK mutilans e sordità","Sindrome di Vohwinkel"],"definition":"Il cheratoderma mutilante ereditario è un cheratoderma palmoplantare raro, ereditario, diffuso e mutilante, caratterizzato da grave cheratosi palmoplantare a nido d'ape e pseudo-ainhum delle dita, che esita nell'autoamputazione. Si associa a sordità neurosensoriale congenita lieve-moderata. Altri segni clinici sono la cheratosi stellata sulle superfici estensorie delle dita, dei piedi, dei gomiti e delle ginocchia. Può associarsi ad alopecia, onicogriposi, distrofia ungueale o ippocratismo, paraplegia spastica e miopatia."},"nl":{"name":"Keratoderma hereditarium mutilans","synonyms":["Mutilerende keratodermie plus doofheid","Mutilerende keratodermie van Vohwinkel","PPK-mutilans en doofheid","Syndroom van Vohwinkel"],"definition":"Keratoderma hereditarium mutilans is een zeldzame, diffuse, mutilerende, erfelijke palmoplantaire keratodermie die gekarakteriseerd wordt door ernstige palmoplantaire keratose met een honingraatpatroon en pseudo-ainhum van de vingers/tenen met auto-amputatie tot gevolg, geassocieerd met mild tot matig congenitaal sensorineuraal gehoorverlies. Bijkomende kenmerken zijn onder meer stervormige keratose op het strekoppervlak van de vingers, voeten, ellebogen en knieën. Alopecie, onychogryfose, nageldystrofie of trommelstokvingers, spastische paraplegie en myopathie kunnen ook geassocieerd zijn."},"pt":{"name":"Queratodermia hereditária mutilante","synonyms":["Síndrome Vohvinkel"]},"pl":{"name":"Zespół Vohwinkela","synonyms":["PPK mutilans i głuchota","Rogowiec okaleczający plus głuchota","Rogowiec okaleczający Vohwinkela","Zespół Vohwinkela"],"definition":"*Rogowiec okaleczający Vohwinkela jest rzadkim, rozlanym, okaleczającym, dziedzicznym rogowaceniem dłoniowo-podeszwowym, które charakteryzuje się ciężkim rogowaceniem dłoni i podeszw o wzorze plastra miodu i prowadzącymi do amputacji przewężeniami palców, z towarzyszącym wrodzonym niedosłuchem czuciowo-nerwowym o nasileniu łagodnym lub umiarkowanym. Dodatkowe objawy obejmują rogowacenie gwiaździste na powierzchniach wyprostnych palców, stóp, łokci i kolan. Mogą również wystąpić łysienie, onychogryfoza (szponowatość paznokci), dystrofia paznokci lub paznokcie pałeczkowate, paraplegia spastyczna i miopatia."},"cs":{"name":"Hereditární keratoderma mutilans","synonyms":["Vohnwinkelova mutilující keratoderma","Mutilující keratoderma s hluchotou","Mutilující PPK a hluchota","Vohnwinkelův syndrom"]},"uk":{"name":"Спадкова мутилююча кератодермія","synonyms":["Калічаща кератодермія Фогвінкеля","Калічаща кератодермія плюс глухота","Калічить кератодермія плюс втрата слуху","PPK мутиланс і глухота","PPK mutilans та втрата слуху","Синдром Вохвінкеля"],"definition":"Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated."},"zh":{"name":"残毁性掌跖角皮症","synonyms":["残毁性角皮症伴听力损失"]},"tr":{"name":"Keratoderma hereditarium mutilans","synonyms":["Vohwinkel sendromu","PPK mutilans ve sağırlık","PPK mutilans ve işitme kaybı","Vohwinkel'in keratoderma bozulması","Keratoderma bozulması artı sağırlık","Keratoderma bozulması artı işitme kaybı"]}},"xrefs":[{"source":"OMIM","code":"124500","qualifier":"E","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":"108018162"},{"source":"MONDO","code":"0007422","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536457","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265964","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3092","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]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"GJB2","name":"gap junction protein beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20854437[PMID]_22960825[PMID]","hgnc":"4284","ensembl":"ENSG00000165474","omim":"121011","loci":["13q12.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"19282408[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19282408[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009775","label":"Amniotic constriction ring","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007460","label":"Autoamputation of digits","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007465","label":"Honeycomb palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002143","label":"Abnormality of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null}]}}