CRIE
MCID: ERY060
MIFTS: 35

Erythroderma, Ichthyosiform, Congenital Reticular (CRIE)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Erythroderma, Ichthyosiform, Congenital Reticular

MalaCards integrated aliases for Erythroderma, Ichthyosiform, Congenital Reticular:

Name: Erythroderma, Ichthyosiform, Congenital Reticular 58 76 30 6
Ichthyosis with Confetti 58 26 60 76 38 13
Ichthyosis Variegata 58 26 60 76
Crie 58 26 60 76
Iwc 58 26 60 76
Congenital Reticular Ichthyosiform Erythroderma 26 60 74
Erythrokeratoderma, Reticular 30 74
Erythroderma, Ichthyosiform, Congenital Reticular ) 41
Ichthyosis with Confetti; Iwc 58
Reticular Erythrokeratoderma 76
Aarau Disease 76

Characteristics:

Orphanet epidemiological data:

60
congenital reticular ichthyosiform erythroderma
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
at birth, there is generalized red scaly skin
hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time


HPO:

33
erythroderma, ichthyosiform, congenital reticular:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


Summaries for Erythroderma, Ichthyosiform, Congenital Reticular

OMIM : 58 Congenital reticular ichthyosiform erythroderma (CRIE), also known as ichthyosis with confetti (IWC), is a rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis (summary by Krunic et al., 2003). (609165)

MalaCards based summary : Erythroderma, Ichthyosiform, Congenital Reticular, also known as ichthyosis with confetti, is related to ichthyosis and degos 'en cocarde' erythrokeratoderma. An important gene associated with Erythroderma, Ichthyosiform, Congenital Reticular is KRT10 (Keratin 10), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin, and related phenotypes are hypertrichosis and clubbing

Genetics Home Reference : 26 Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. The numerous pale spots surrounded by red skin look like confetti, giving the condition its name. The patches of normal skin increase in number and size over time.

UniProtKB/Swiss-Prot : 76 Erythroderma, ichthyosiform, congenital reticular: A rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis.

Wikipedia : 77 Ichthyosis en confetti, is a very rare form of congenital ichthyosis in which healthy patches of normal... more...

Related Diseases for Erythroderma, Ichthyosiform, Congenital Reticular

Graphical network of the top 20 diseases related to Erythroderma, Ichthyosiform, Congenital Reticular:



Diseases related to Erythroderma, Ichthyosiform, Congenital Reticular

Symptoms & Phenotypes for Erythroderma, Ichthyosiform, Congenital Reticular

Human phenotypes related to Erythroderma, Ichthyosiform, Congenital Reticular:

33
# Description HPO Frequency HPO Source Accession
1 hypertrichosis 33 occasional (7.5%) HP:0000998
2 clubbing 33 occasional (7.5%) HP:0001217
3 erythroderma 33 HP:0001019
4 palmoplantar hyperkeratosis 33 HP:0000972

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
palmoplantar hyperkeratosis
erythematous ichthyotic skin with reticulate pattern
numerous 'confetti-like' scattered patches of normal skin

Skin Nails Hair Nails:
clubbing (rare)

Immunology:
susceptibility to bacterial infections due to poor skin integrity

Skin Nails Hair Hair:
hypertrichosis (rare)

Skin Nails Hair Skin Histology:
absence of stratum granulosum
retained nuclei in stratum corneum

Clinical features from OMIM:

609165

Drugs & Therapeutics for Erythroderma, Ichthyosiform, Congenital Reticular

Search Clinical Trials , NIH Clinical Center for Erythroderma, Ichthyosiform, Congenital Reticular

Genetic Tests for Erythroderma, Ichthyosiform, Congenital Reticular

Genetic tests related to Erythroderma, Ichthyosiform, Congenital Reticular:

# Genetic test Affiliating Genes
1 Erythrokeratoderma, Reticular 30
2 Erythroderma, Ichthyosiform, Congenital Reticular 30 KRT10

Anatomical Context for Erythroderma, Ichthyosiform, Congenital Reticular

MalaCards organs/tissues related to Erythroderma, Ichthyosiform, Congenital Reticular:

42
Skin

Publications for Erythroderma, Ichthyosiform, Congenital Reticular

Articles related to Erythroderma, Ichthyosiform, Congenital Reticular:

(show all 14)
# Title Authors Year
1
Ichthyosis with Confetti Inherited from a Mosaic Father. ( 29135017 )
2018
2
Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10. ( 28556375 )
2017
3
Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy. ( 28944608 )
2017
4
Expanding the Mutation Spectrum of Ichthyosis with Confetti. ( 27664712 )
2016
5
Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation. ( 27208707 )
2016
6
Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1. ( 27283508 )
2016
7
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. ( 25774499 )
2015
8
Ichthyosis with confetti: clinics, molecular genetics and management. ( 26381864 )
2015
9
The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome. ( 25210931 )
2015
10
Phenotypic expansion in ichthyosis with confetti. ( 25210951 )
2015
11
Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10. ( 24626314 )
2014
12
Ichthyosis with confetti: a rare diagnosis and treatment plan. ( 25012887 )
2014
13
Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation. ( 21929535 )
2012
14
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. ( 20798280 )
2010

Variations for Erythroderma, Ichthyosiform, Congenital Reticular

ClinVar genetic disease variations for Erythroderma, Ichthyosiform, Congenital Reticular:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT10 NM_000421.3(KRT10): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs58852768 GRCh37 Chromosome 17, 38978372: 38978372
2 KRT10 NM_000421.3(KRT10): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs58852768 GRCh38 Chromosome 17, 40822120: 40822120
3 KRT10 NM_000421.3(KRT10): c.1374-2A> G single nucleotide variant Pathogenic rs587776815 GRCh37 Chromosome 17, 38975415: 38975415
4 KRT10 NM_000421.3(KRT10): c.1374-2A> G single nucleotide variant Pathogenic rs587776815 GRCh38 Chromosome 17, 40819163: 40819163
5 KRT10 NM_000421.3(KRT10): c.1373+1G> A single nucleotide variant Pathogenic rs587776816 GRCh37 Chromosome 17, 38975768: 38975768
6 KRT10 NM_000421.3(KRT10): c.1373+1G> A single nucleotide variant Pathogenic rs587776816 GRCh38 Chromosome 17, 40819516: 40819516
7 KRT10 NM_000421.3(KRT10): c.1449dupC (p.Gly484Argfs) duplication Pathogenic rs587776817 GRCh37 Chromosome 17, 38975338: 38975338
8 KRT10 NM_000421.3(KRT10): c.1449dupC (p.Gly484Argfs) duplication Pathogenic rs587776817 GRCh38 Chromosome 17, 40819086: 40819086
9 KRT10 NM_000421.3(KRT10): c.1560_1561delCG (p.Gly521Profs) deletion Pathogenic rs267607384 GRCh37 Chromosome 17, 38975226: 38975227
10 KRT10 NM_000421.3(KRT10): c.1560_1561delCG (p.Gly521Profs) deletion Pathogenic rs267607384 GRCh38 Chromosome 17, 40818974: 40818975
11 KRT1 NM_006121.3(KRT1): c.1865_1866insG (p.Val623Cysfs) insertion Pathogenic rs1555171158 GRCh37 Chromosome 12, 53069046: 53069047
12 KRT1 NM_006121.3(KRT1): c.1865_1866insG (p.Val623Cysfs) insertion Pathogenic rs1555171158 GRCh38 Chromosome 12, 52675262: 52675263

Expression for Erythroderma, Ichthyosiform, Congenital Reticular

Search GEO for disease gene expression data for Erythroderma, Ichthyosiform, Congenital Reticular.

Pathways for Erythroderma, Ichthyosiform, Congenital Reticular

Pathways related to Erythroderma, Ichthyosiform, Congenital Reticular according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.08 KRT1 KRT10

GO Terms for Erythroderma, Ichthyosiform, Congenital Reticular

Cellular components related to Erythroderma, Ichthyosiform, Congenital Reticular according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.96 KRT1 KRT10
2 cornified envelope GO:0001533 8.62 KRT1 KRT10

Biological processes related to Erythroderma, Ichthyosiform, Congenital Reticular according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.26 KRT1 KRT10
2 cornification GO:0070268 9.16 KRT1 KRT10
3 peptide cross-linking GO:0018149 8.96 KRT1 KRT10
4 protein heterotetramerization GO:0051290 8.62 KRT1 KRT10

Molecular functions related to Erythroderma, Ichthyosiform, Congenital Reticular according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.16 KRT1 KRT10
2 structural molecule activity GO:0005198 8.96 KRT1 KRT10
3 structural constituent of epidermis GO:0030280 8.62 KRT1 KRT10

Sources for Erythroderma, Ichthyosiform, Congenital Reticular

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75 UMLS via Orphanet
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