FAQ

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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1935-2018
020406019352017

Related topics

Related topics

29 relations
Aspects of mortality statisticsCollodion FetusCongenital ichthyosisHarlequin Fetus
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Narrower (5)

ICHTHYOSIS, LAMELLAR, 3Ichthyosiform erythroderma, corneal involvement, deafnessIchthyosis Congenita IILamellar ichthyosis, autosomal dominant form
(More)

Broader (2)

IchthyosesIchthyosiform Erythroderma, Congenital

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Congenital Nonbullous Ichthyosiform Erythroderma
prevention & control
In Blood
Skin
Keratosis
Keratinization, function

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… (More)
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2008
2008
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.
BACKGROUND Collodion phenotype is a term applied to the condition affecting a newborn involving a parchmentlike membrane covering… (More)
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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… (More)
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Review
2004
Review
2004
Clinico-epidemiological features of congenital nonbullous ichthyosiform erythroderma in the eastern province of Saudi Arabia.
BACKGROUND A total of 10 455 new dermatology patients were seen in the dermatology clinics of King Fahd Hospital of the… (More)
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Highly Cited
1998
Highly Cited
1998
Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase).
The stratum corneum of the skin serves as an effective barrier for maintenance of the internal milieu against the external… (More)
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Highly Cited
1995
Highly Cited
1995
Mutations of keratinocyte transglutaminase in lamellar ichthyosis.
Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected… (More)
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Highly Cited
1995
Highly Cited
1995
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
We recently mapped the disease locus for severe autosomal recessive lamellar ichthyosis (LI) to chromosome 14q11 and showed… (More)
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1986
1986
A mother and two children with nonbullous congenital ichthyosiform erythroderma.
A mother and her two daughters were all afflicted by congenital nonbullous ichthyosis. The clinical and ultrastructural picture… (More)
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1985
1985
Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma.
Nonbullous congenital ichthyosiform erythroderma (CIE) and classic lamellar ichthyosis (LI) can be distinguished by clinical… (More)
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1985
1985
Clinical, histologic, and cell kinetic discriminants between lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma.
Patients described as having lamellar ichthyosis (LI) may not all have the same disorder. We studied nine patients, four of whom… (More)
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