{"orpha":79395,"name":"Keratoderma hereditarium mutilans with ichthyosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Camisa disease","Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome","Loricrin keratoderma","Vohwinkel syndrome with ichthyosis"],"definition":"A rare diffuse, mutilating, hereditary palmoplantar keratoderma 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-79395/","orphanet_url":"https://www.orpha.net/en/disease/detail/79395","names":{"fr":{"name":"Kératodermie mutilante avec ichtyose","synonyms":["Syndrome de kératodermie-dermatose ichtyiosiforme-bêta-glucuronidase élévée","Kératodermie due à des anomalies de la loricrine","Maladie de Camisa","Syndrome de Vohwinkel-ichtyose"],"definition":"La kératodermie mutilante avec ichtyose est une kératodermie palmoplantaire diffuse caractérisée par une hyperkératose palmoplantaire en « rayons de miel » associée à un pseudo-aïnhum du cinquième doigt des mains, une ichtyose et une surdité. La maladie suit un mode de transmission autosomique dominant."},"de":{"name":"Keratoderma hereditarium mutilans mit Ichthyose","synonyms":["Camisa-Krankheit","Keratodermatose - ichthyosiforme Dermatose - erhöhte Beta-Glucuronidase-Aktivität","Loricrin-Keratoderma","Vohwinkel-Syndrom - Ichthyose"]},"es":{"name":"Queratodermia hereditaria mutilante con ictiosis","synonyms":["Enfermedad de Camisa","Queratodermia loricrina","Queratodermia-dermatosis ictiosiforme-beta-glucuronidasa elevada","Síndrome de Vohwinkel-ictiosis"],"definition":"Es una queratodermia palmoplantar difusa caracterizada por hiperqueratosis palmoplantar en panal, asociada a pseudoainhum de los dedos meñiques de las manos, ictiosis y sordera. Sigue un patrón de herencia autosómico dominante."},"it":{"name":"Keratoderma hereditarium mutilans con ittiosi","synonyms":["Cheratoderma - dermatosi ittiosiforme - aumento di beta-glucuronidasi","Cheratoderma - dermatosi ittiosiforme - beta-glucuronidasi elevata","Cheratoderma da anomalie della loricrina","Malattia di Camisa","Sindrome di Vohwinkel - ittiosi"],"definition":"Il cheratoderma ereditario mutilante con ittiosi è un cheratoderma palmo-plantare diffuso caratterizzato da ipercheratosi palmo-plantare a nido d'ape associata a pseudo-ainhum del quinto dito della mano, ittiosi e sordità. Il cheratoderma ereditario mutilante con ittiosi ha una trasmissione autosomica dominante."},"nl":{"name":"Keratoderma hereditarium mutilans met ichthyosis","synonyms":["Keratodermie - ichthyosiforme dermatose - verhoogd bèta-glucuronidase-syndroom","Loricrine-keratodermie","Syndroom van Vohwinkel met ichthyosis","Ziekte van Camisa"],"definition":"Keratoderma hereditarium mutilans met ichthyosis is een diffuse palmoplantaire keratodermie die wordt gekarakteriseerd door honingraat palmoplantaire hyperkeratose geassocieerd met pseudo-ainhum van de vijfde vinger, ichthyosis en doofheid. Keratoderma hereditarium mutilans met ichthyosis volgt een autosomaal dominant overervingspatroon."},"pt":{"name":"Queratodermia hereditária mutilante com ictiose","synonyms":["Síndrome Vohwinkel com ictiose"]},"pl":{"name":"Dziedziczna keratodermia zniekształcajaca z rybią łuską","synonyms":["Choroba Camisa","Keratodermia - zapalenie skóry w formie rybiej łuski - podwyższony poziom glukuronidazy","Keratodermia lorikrynowa","Zespół Vohwinkela - rybia łuska"]},"cs":{"name":"Keratoderma hereditarium mutilans s ichtyózou","synonyms":["Camisova nemoc","Syndrom zahrnující keratoderma, ichtyoziformní dermatózu a zvýšenou beta-glukuronidázu","Lorikrinové keratoderma","Syndrom zahrnující Vohwinkelův syndrom a ichtyózu","Vohwinkelův syndrom s ichtyózou"]},"uk":{"name":"Спадкова мутилююча кератодермія з іхтіозом","synonyms":["Хвороба Камізи","Синдром кератодермії - іхтіозиформного дерматозу - підвищеної бета-глюкуронідази","Лорикринова кератодермія","Синдром Фогвінкеля з іхтіозом"],"definition":"A rare diffuse, mutilating, hereditary palmoplantar keratoderma 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":"残毁遗传性皮肤角化病伴鱼鳞病","synonyms":["皮肤角化病-鱼鳞状皮肤病-β-葡糖醛酸糖苷酶升高综合征"]},"tr":{"name":"İktiyoz ile seyreden keratoderma hereditarium mutilans","synonyms":["Camisa hastalığı","Loricrin keratoderma","İktiyozlu Vohwinkel sendromu","Keratoderma-iktiyoziform dermatoz-artmış beta-glukuronidaz sendromu"]}},"xrefs":[{"source":"OMIM","code":"604117","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":"1192909228"},{"source":"MONDO","code":"0011396","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858805","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":281082,"name":"Inherited non-syndromic ichthyosis","classifications":[156,187]}],"children":[],"genes":[{"symbol":"LORICRIN","name":"loricrin cornified envelope precursor protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17953701[PMID]_12072018[PMID]","hgnc":"6663","ensembl":"ENSG00000203782","omim":"152445","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"24346921[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24346921[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-12-06","source":"32695713[PMID]_32833329[PMID]","terms":[{"hpo":"HP:0010491","label":"Digital constriction ring","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007503","label":"Generalized ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007479","label":"Congenital nonbullous ichthyosiform erythroderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007465","label":"Honeycomb palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025114","label":"Hypergranulosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032541","label":"Knuckle pad","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001036","label":"Parakeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025525","label":"Scaling skin on fingertip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025092","label":"Epidermal acanthosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001805","label":"Onychogryphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040162","label":"Orthokeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Excluded (0%)","criteria":null}]}}