{"orpha":281103,"name":"Keratinopathic ichthyosis","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["KPI"],"definition":"A group of rare inherited non-syndromic ichthyoses characterized by mutations in keratin genes. Mutations in <i>KRT1</i> and <i>KRT10</i> cause most cases of epidermolytic ichthyosis (EI), as well as congenital reticular ichthyosiform erythroderma (CRIE). EI manifests at birth with generalized blistering, which later transforms into hyperkeratosis. Severe palmoplantar involvement is suggestive of the presence of a <i>KRT1</i> mutation. CRIE patients present at birth with erythroderma and scaling, often with a collodion membrane, and gradually develop confetti-like clear areas of normal skin. <i>KRT2</i> mutations are associated with superficial epidermolytic ichthyosis (SEI), which is clinically similar to EI, but generally milder and more localized.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-281103/","orphanet_url":"https://www.orpha.net/en/disease/detail/281103","names":{"fr":{"name":"Ichtyose kératinopathique","synonyms":["KPI"],"definition":"Groupe d'ichtyoses héréditaires rares non syndromiques caractérisées par des mutations des gènes de la kératine. Les mutations de <i>KRT1</i> et <i>KRT10</i> sont à l'origine de la plupart des cas d'ichtyose épidermolytique (IE), ainsi que de l'érythrodermie congénitale ichtyosiforme réticulaire (CRIE). L'IE se manifeste à la naissance par des cloques généralisées, évoluant vers une hyperkératose. Une atteinte palmoplantaire sévère est évocatrice de la présence d'une mutation du gène <i>KRT1</i>. À la naissance, les patients atteints de CRIE présentent une érythrodermie et une desquamation, faisant souvent suite à la disparition de la membrane de collodion. Progressivement on voit apparaître des zones de peau saine en « confettis ». Les mutations de <i>KRT2</i> sont associées à l'ichtyose épidermolytique superficielle (IES), dont les signes cliniques sont similaires à ceux de l'IE, mais qui est généralement plus bénigne et plus localisée."},"de":{"name":"Ichthyose, keratinopathische","synonyms":["KPI"],"definition":"Eine Gruppe seltener vererbter nicht-syndromaler Ichthyosen, die durch Mutationen in Keratin-Genen gekennzeichnet sind. Mutationen in den Genen <i>KRT1</i> und <i>KRT10</i> verursachen die Mehrzahl der Fälle von epidermolytischer Ichthyose (EI) sowie von kongenitaler retikulärer ichthyosiformer Erythrodermie (CRIE). Die EI manifestiert sich bei der Geburt mit einer generalisierten Blasenbildung, die später in eine Hyperkeratose übergeht. Eine starke palmoplantare Beteiligung deutet auf das Vorhandensein einer <i>KRT1</i>-Mutation hin. CRIE-Patienten zeigen bei der Geburt Erythrodermie und Schuppung, oft mit einer Kollodiummembran, und entwickeln allmählich konfettiartige klare Bereiche mit normaler Haut. <i>KRT2</i>-Mutationen werden mit der oberflächlichen epidermolytischen Ichthyose (SEI) in Verbindung gebracht, die klinisch der EI ähnelt, aber im Allgemeinen milder und stärker lokalisiert ist."},"es":{"name":"Ictiosis queratinopática","synonyms":["KPI"],"definition":"Es un grupo poco frecuente de ictiosis no sindrómicas hereditarias caracterizado por mutaciones de los genes de la queratina. Las mutaciones de los genes <i>KRT1</i> y <i>KRT10</i> son causa de la mayoría de los casos de ictiosis epidermolítica (IE), así como de eritrodermia ictiosiforme reticular congénita (EIRC). La IE se manifiesta al nacimiento con ampollas generalizadas, que derivan posteriormente en hiperqueratosis. La afectación palmoplantar grave sugiere la presencia de una mutación de <i>KRT1</i>. Los pacientes con EIRC se presentan al nacimiento con eritrodermia y descamación, a menudo con una membrana de colodión, desarrollando áreas claras de piel normal similares a confeti de forma gradual. Las mutaciones de <i>KRT2</i> se asocian a la ictiosis epidermolítica superficial (SEI), que es clínicamente similar a la IE, aunque suele ser más leve y más localizada."},"it":{"name":"Ittiosi cheratinopatica","synonyms":["KPI"],"definition":"Si tratta di un gruppo di ittiosi ereditarie non sindromiche rare, caratterizzate da mutazioni nei geni della cheratina. Le mutazioni di KRT1 e KRT10 causano la maggior parte dei casi di ittiosi epidermolitica (EI) e di eritroderma ittiosiforme reticolare congenito (CRIE). L'EI si manifesta alla nascita con vesciche generalizzate, che successivamente evolvono nell'ipercheratosi. Un marcato coinvolgimento palmoplantare è indicativo della presenza di una mutazione di KRT1. Alla nascita, i pazienti con CRIE presentano eritroderma e desquamazione, spesso con membrana colloidale, e sviluppano gradualmente aree chiare di cute normale simili ai coriandoli. Le mutazioni di KRT2 si associano all'ittiosi epidermolitica superficiale (SEI), che è clinicamente simile all'EI, ma in genere più lieve e localizzata."},"nl":{"name":"Keratinopathische ichthyosis","synonyms":["KPI"],"definition":"Een groep van zeldzame erfelijke niet-syndromale ichtyosen, gekarakteriseerd door mutaties in genen voor keratines. Mutaties in <i>KRT1</i> en <i>KRT10</i> veroorzaken de ergste gevallen van epidermolytische ichthyosis (EI), alsook congenitale reticulaire ichthyosiforme erytrodermie (CRIE). EI manifesteert zich bij de geboorte met gegeneraliseerde blaarvorming, die later transformeert tot hyperkeratose. Ernstige palmoplantaire betrokkenheid wijst op de aanwezigheid van een mutatie in <i>KRT1</i>. CRIE-patiënten vertonen bij de geboorte erytrodermie en desquamatie, vaak met een collodiummembraan, en ontwikkelen geleidelijk confetti-achtige heldere gebieden met normale huid. Mutaties in <i>KRT2</i> zijn geassocieerd met superficiële epidermolytische ichthyosis (SEI), die klinisch gelijkaardig is aan EI, maar doorgaans milder en meer gelokaliseerd."},"pt":{"name":"Ictiose queratinopática","synonyms":["KPI"]},"pl":{"name":"Rybia łuska z keratynopatią","synonyms":["KPI"]},"cs":{"name":"Keratinopatická ichtyóza","synonyms":["KPI"]},"uk":{"name":"Кератинопатичний іхтіоз","synonyms":["KPI"],"definition":"A group of rare inherited non-syndromic ichthyoses characterized by mutations in keratin genes. Mutations in <i>KRT1</i> and <i>KRT10</i> cause most cases of epidermolytic ichthyosis (EI), as well as congenital reticular ichthyosiform erythroderma (CRIE). EI manifests at birth with generalized blistering, which later transforms into hyperkeratosis. Severe palmoplantar involvement is suggestive of the presence of a <i>KRT1</i> mutation. CRIE patients present at birth with erythroderma and scaling, often with a collodion membrane, and gradually develop confetti-like clear areas of normal skin. <i>KRT2</i> mutations are associated with superficial epidermolytic ichthyosis (SEI), which is clinically similar to EI, but generally milder and more localized."},"zh":{"name":"角化性鱼鳞病","synonyms":["KPI"]},"tr":{"name":"Keratinopatik iktiyoz","synonyms":["KPI"]}},"xrefs":[{"source":"ICD-11","code":"EC20.03","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"992865924"},{"source":"MONDO","code":"0017266","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17266","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511307","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281082,"name":"Inherited non-syndromic ichthyosis","classifications":[156,187]}],"children":[{"orpha":281139,"name":"Annular epidermolytic ichthyosis","type":"Disease"},{"orpha":312,"name":"Autosomal dominant epidermolytic ichthyosis","type":"Disease"},{"orpha":512103,"name":"Autosomal recessive epidermolytic ichthyosis","type":"Disease"},{"orpha":281190,"name":"Congenital reticular ichthyosiform erythroderma","type":"Disease"},{"orpha":497737,"name":"Epidermolytic nevus","type":"Disease"},{"orpha":79503,"name":"Ichthyosis hystrix of Curth-Macklin","type":"Disease"},{"orpha":455,"name":"Superficial epidermolytic ichthyosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"France","status":"Validated","source":"24393603[PMID]"}],"phenotypes":null}