Ichthyosiform Erythroderma, Congenital

Known as: Congenital ichthyosis, Congenital Ichthyosiform Erythrodermas, alligator skin 
Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased… (More)
National Institutes of Health

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12 relations
Chondrodysplasia punctata, X-linked dominant typeCongenital ichthyosisIn BloodMicrobiological
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Narrower (4)

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb DefectsCongenital Nonbullous Ichthyosiform ErythrodermaHyperkeratosis, EpidermolyticTriglyceride storage disease with ichthyosis

Papers overview

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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… (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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Review
2003
Review
2003
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.
Until about 20 years ago, the term lamellar ichthyosis (LI) represented all nonbullous autosomal recessive ichthyoses except for… (More)
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Highly Cited
2002
Highly Cited
2002
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.
We report the identification of mutations in lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) genes in non-bullous… (More)
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2001
2001
Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.
We report novel mutations in the transglutaminase (TGase) 1 gene (TGM1) in a Japanese boy with non-bullous congenital… (More)
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Highly Cited
2001
Highly Cited
2001
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE… (More)
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1998
1998
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway
Autosomal recessive congenital ichtyosis (ARCI) is a clinically heterogeneous disorder of keratinisation. It was recently shown… (More)
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1992
1992
Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma).
Aggregation of tonofilaments within epidermal keratinocytes is a characteristic histologic feature of epidermolytic… (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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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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