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Congenital Nonbullous Ichthyosiform Erythroderma

Known as: congenital ichthyosis, Congenital non-bullous ichthyosis, Ichthyosiformes, Nonbullous Erythroderma 
A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds… Expand
National Institutes of Health

Related topics

Related topics

29 relations
Collodion FetusHarlequin FetusHyperkeratosis, EpidermolyticIchthyosis linearis circumflexa
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Narrower (7)

Congenital ichthyosisHarlequin type ichthyosisIchthyosiform erythroderma, corneal involvement, deafnessIchthyosis Congenita II
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Broader (2)

IchthyosesIchthyosiform Erythroderma, Congenital

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
Ichthyoses comprise a heterogeneous group of genodermatoses characterized by abnormal desquamation over the whole body, for which… Expand
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Review
2010
Review
2010
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.
BACKGROUND Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of… Expand
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Highly Cited
2010
Highly Cited
2010
High current generation coupled to caustic production using a lamellar bioelectrochemical system.
Recently, bioelectrochemical systems (BESs) have emerged as a promising technology for energy and product recovery from… Expand
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Highly Cited
2009
Highly Cited
2009
Preparation of BiOBr lamellar structure with high photocatalytic activity by CTAB as Br source and template.
Visible-light-induced photocatalyst BiOBr has been synthesized by a hydrothermal method, in which cetyltrimethylammonium bromide… Expand
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Highly Cited
2008
Highly Cited
2008
Ordered Mesoporous Materials from Metal Nanoparticle–Block Copolymer Self-Assembly
The synthesis of ordered mesoporous metal composites and ordered mesoporous metals is a challenge because metals have high… Expand
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Highly Cited
2005
Highly Cited
2005
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.
Harlequin ichthyosis (HI) is a devastating skin disorder with an unknown underlying cause. Abnormal keratinocyte lamellar… Expand
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Highly Cited
2004
Highly Cited
2004
Acute morphological and physiological effects of lead in the neotropical fish Prochilodus lineatus.
The present study investigated lead effects on gill morphology, hematocrit, blood sodium, glucose, lipids, protein, and… Expand
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Review
2000
Review
2000
Diffuse lamellar keratitis: diagnosis and management.
With the volume of laser in situ keratomileusis procedures growing exponentially, ophthalmologists and other eye-care providers… Expand
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Review
2000
Review
2000
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme… Expand
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Highly Cited
1997
Highly Cited
1997
alpha-Galactosidase A deficient mice: a model of Fabry disease.
Fabry disease is an X-linked inherited metabolic disorder that is caused by a deficiency of alpha-galactosidase A (alpha-Gal A… Expand
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