CRIE
MCID: ERY060
MIFTS: 34

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 57 75 29 6
Ichthyosis with Confetti 57 25 59 75 37 13
Ichthyosis Variegata 57 25 59 75
Crie 57 25 59 75
Iwc 57 25 59 75
Congenital Reticular Ichthyosiform Erythroderma 25 59 73
Erythroderma, Ichthyosiform, Congenital Reticular ) 40
Ichthyosis with Confetti; Iwc 57
Erythrokeratoderma, Reticular 73
Reticular Erythrokeratoderma 75
Aarau Disease 75

Characteristics:

Orphanet epidemiological data:

59
congenital reticular ichthyosiform erythroderma
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
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:

32
erythroderma, ichthyosiform, congenital reticular:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Erythroderma, Ichthyosiform, Congenital Reticular

OMIM : 57 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 optic nerve disease. 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 erythroderma and palmoplantar hyperkeratosis

Genetics Home Reference : 25 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 : 75 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 : 76 Ichthyosis en confetti, also known as ichthyosis with confetti, congenital reticular ichthyosiform... 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Erythroderma, Ichthyosiform, Congenital Reticular:

32
# Description HPO Frequency HPO Source Accession
1 erythroderma 32 HP:0001019
2 palmoplantar hyperkeratosis 32 HP:0000972
3 hypertrichosis 32 occasional (7.5%) HP:0000998
4 clubbing 32 occasional (7.5%) HP:0001217

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 Erythroderma, Ichthyosiform, Congenital Reticular 29 KRT10

Anatomical Context for Erythroderma, Ichthyosiform, Congenital Reticular

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

41
Skin

Publications for Erythroderma, Ichthyosiform, Congenital Reticular

Articles related to Erythroderma, Ichthyosiform, Congenital Reticular:

(show all 13)
# Title Authors Year
1
Ichthyosis with Confetti Inherited from a Mosaic Father. ( 29135017 )
2018
2
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
3
Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10. ( 28556375 )
2017
4
Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation. ( 27208707 )
2016
5
Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation inA KRT1. ( 27283508 )
2016
6
Expanding the Mutation Spectrum of Ichthyosis with Confetti. ( 27664712 )
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
Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10. ( 24626314 )
2014
10
Phenotypic Expansion in Ichthyosis With Confetti. ( 25210951 )
2014
11
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 )
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

Variations for Erythroderma, Ichthyosiform, Congenital Reticular

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....