About: Epidermolytic hyperkeratosis     Goto   Sponge   NotDistinct   Permalink

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Epidermolytic ichthyosis (EI), also known as bullous epidermis ichthyosis (BEI), epidermolytic hyperkeratosis (EHK), bullous congenital ichthyosiform erythroderma (BCIE), bullous ichthyosiform erythroderma or bullous congenital ichthyosiform erythroderma Brocq, is a rare and severe form of ichthyosis this skin disease affects around 1 in 300,000 people. The condition is caused by a genetic mutation, so it cannot be completely cured without some form of gene therapy. The condition involves the clumping of keratin filaments.

AttributesValues
rdf:type
rdfs:label
  • Epidermolytische Ichthyose (de)
  • Epidermolytic hyperkeratosis (en)
  • Ipercheratosi epidermolitica (it)
rdfs:comment
  • L'ipercheratosi epidermolitica è una forma di ittiosi, che per sua natura si manifesta già all'atto della nascita; fu scoperta da Brocq nel 1902. (it)
  • Die Epidermolytische Ichthyose ist eine seltene angeborene Hautkrankheit (Genodermatose), eine Form einer Ichthyose mit den Hauptmerkmalen Blasenbildung bereits beim Neugeborenen mit Hyperkeratosen. Sie kann als Sonderform der Harlekin-Ichthyose angesehen werden. Synonyme sind: EI; Bullöse kongenitale ichthyosiforme Erythrodermie Brocq; BCIE; Erythrodermie, ichthyosiforme kongenitale, bullöse Form; Epidermolytische Hyperkeratose; EHK; Ichthyose, bullöse; lateinisch Erythrodermia ichthyosiformis congenitalis Brocq; Keratosis rubra congenita Rille; (de)
  • Epidermolytic ichthyosis (EI), also known as bullous epidermis ichthyosis (BEI), epidermolytic hyperkeratosis (EHK), bullous congenital ichthyosiform erythroderma (BCIE), bullous ichthyosiform erythroderma or bullous congenital ichthyosiform erythroderma Brocq, is a rare and severe form of ichthyosis this skin disease affects around 1 in 300,000 people. The condition is caused by a genetic mutation, so it cannot be completely cured without some form of gene therapy. The condition involves the clumping of keratin filaments. (en)
foaf:name
  • Epidermolytic Ichthyosis (EI) (en)
name
  • Epidermolytic Ichthyosis (en)
foaf:depiction
  • http://commons.wikimedia.org/wiki/Special:FilePath/Epidetmolytic_ichtyosis.jpg
dcterms:subject
Wikipage page ID
Wikipage revision ID
Link from a Wikipage to another Wikipage
Link from a Wikipage to an external page
sameAs
SNOMED CT
dbp:wikiPageUsesTemplate
thumbnail
DiseasesDB
ICD
  • (en)
  • Q80.3 (en)
MeshID
  • D017488 (en)
OMIM
Orphanet
synonyms
  • Bullous epidermis ichthyosis (en)
has abstract
  • Die Epidermolytische Ichthyose ist eine seltene angeborene Hautkrankheit (Genodermatose), eine Form einer Ichthyose mit den Hauptmerkmalen Blasenbildung bereits beim Neugeborenen mit Hyperkeratosen. Sie kann als Sonderform der Harlekin-Ichthyose angesehen werden. Synonyme sind: EI; Bullöse kongenitale ichthyosiforme Erythrodermie Brocq; BCIE; Erythrodermie, ichthyosiforme kongenitale, bullöse Form; Epidermolytische Hyperkeratose; EHK; Ichthyose, bullöse; lateinisch Erythrodermia ichthyosiformis congenitalis Brocq; Keratosis rubra congenita Rille; Die Namensbezeichnungen beziehen sich auf die Erstbeschreibung aus dem Jahre 1902 durch den französischen Dermatologen und unabhängig davon aus dem Jahre 1903 durch den Österreichischen Dermatologen Johann Heinrich Rille (1864–1956) (zit. nach ) (de)
  • Epidermolytic ichthyosis (EI), also known as bullous epidermis ichthyosis (BEI), epidermolytic hyperkeratosis (EHK), bullous congenital ichthyosiform erythroderma (BCIE), bullous ichthyosiform erythroderma or bullous congenital ichthyosiform erythroderma Brocq, is a rare and severe form of ichthyosis this skin disease affects around 1 in 300,000 people. The condition is caused by a genetic mutation, so it cannot be completely cured without some form of gene therapy. While some research has been done into possible gene therapy treatments, the work hasn't yet been successfully developed to the stage where it can be routinely given to patients. The condition involves the clumping of keratin filaments. (en)
  • L'ipercheratosi epidermolitica è una forma di ittiosi, che per sua natura si manifesta già all'atto della nascita; fu scoperta da Brocq nel 1902. (it)
eMedicineSubj
  • derm (en)
eMedicineTopic
gold:hypernym
dbp:wordnet_type
eMedicine subject
  • derm (en)
eMedicine topic
  • 590 (en)
MeSH ID
  • D017488
prov:wasDerivedFrom
page length (characters) of wiki page
DiseasesDB
  • 33392
ICD10
  • Q80.3
OMIM id
ORPHA
  • 312
foaf:isPrimaryTopicOf
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