- Concept UI
- M0026530
- Scope Note
- A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.
- Terms
-
Hyperkeratosis, Epidermolytic
Preferred Term
Term UI
T052479
Date01/01/1999
LexicalTag
NON
ThesaurusID
-
Bullous Congenital Ichthyosiform Erythroderma
Term UI
T052476
Date04/03/1992
LexicalTag
NON
ThesaurusID
-
Congenital Bullous Ichthyosiform Erythroderma
Term UI
T052477
Date04/03/1992
LexicalTag
NON
ThesaurusID
NLM (1993)
-
Ichthyosiform Erythroderma, Bullous Congenital
Term UI
T052478
Date04/03/1992
LexicalTag
NON
ThesaurusID
NLM (1993)
-
Congenital Ichthyosiform Erythroderma, Bullous
Term UI
T665693
Date02/03/2006
LexicalTag
NON
ThesaurusID
NLM (2007)
-
Bullous Ichthyosiform Erythroderma Congenital
Term UI
T753339
Date06/24/2009
LexicalTag
NON
ThesaurusID
-
Bullous Erythroderma Ichthyosiformis Congenita of Brocq
Term UI
T781864
Date12/09/2010
LexicalTag
EPO
ThesaurusID
-
Bullous Ichthyosiform Erythroderma
Term UI
T781865
Date12/09/2010
LexicalTag
NON
ThesaurusID
-
Epidermolytic Hyperkeratosis
Term UI
T811954
Date11/15/2011
LexicalTag
NON
ThesaurusID
-
Bullous Erythroderma Ichthyosiforme
Term UI
T841334
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Erythroderma Ichthyosiforme, Bullous
Term UI
T052475
Date04/03/1992
LexicalTag
NON
ThesaurusID
NLM (1993)
-
Epidermolytic Ichthyosis
Term UI
T841335
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)