CRIE
MCID: ERY060
MIFTS: 36

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 72 29 6 39
Ichthyosis with Confetti 57 43 58 72 36 13
Ichthyosis Variegata 57 43 58 72
Crie 57 43 58 72
Iwc 57 43 58 72
Congenital Reticular Ichthyosiform Erythroderma 43 58 70
Erythrokeratoderma, Reticular 29 70
Ichthyosis with Confetti; Iwc 57
Reticular Erythrokeratoderma 72
Aarau Disease 72

Characteristics:

Orphanet epidemiological data:

58
congenital reticular ichthyosiform erythroderma
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
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:

31
erythroderma, ichthyosiform, congenital reticular:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 609165
KEGG 36 H00738
MeSH 44 D016113
Orphanet 58 ORPHA281190
UMLS 70 C1836681 C3665704

Summaries for Erythroderma, Ichthyosiform, Congenital Reticular

MedlinePlus Genetics : 43 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.In addition to red, scaly skin, people with ichthyosis with confetti typically have abnormally thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Many affected individuals have excess hair (hirsutism) on some parts of the body, particularly on the arms and legs. Because of their skin abnormalities, people with ichthyosis with confetti are at increased risk of developing skin infections.

MalaCards based summary : Erythroderma, Ichthyosiform, Congenital Reticular, also known as ichthyosis with confetti, is related to ichthyosis and palmoplantar keratosis. 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

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) (Updated 20-May-2021)

KEGG : 36 Ichthyosis with confetti (IWC) is a rare and severe skin disease characterized by erythroderma, prominent scaling, and palmoplantar keratoderma. Patients develop numerous pale confetti-like white patches on red skin.

UniProtKB/Swiss-Prot : 72 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 : 73 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

Diseases related to Erythroderma, Ichthyosiform, Congenital Reticular via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 ichthyosis 30.3 KRT10-AS1 KRT10 KRT1
2 palmoplantar keratosis 30.3 KRT10 KRT1
3 keratosis 30.2 KRT10 KRT1
4 autosomal recessive congenital ichthyosis 30.0 KRT10 KRT1
5 ichthyosis vulgaris 29.9 KRT10 KRT1
6 erythrokeratodermia variabilis et progressiva 1 29.9 KRT10 KRT1
7 papilloma 29.7 KRT10 KRT1
8 skin disease 29.5 KRT10 KRT1
9 epidermolytic hyperkeratosis 29.4 KRT10-AS1 KRT10 KRT1
10 erythrokeratoderma ''en cocardes'' 10.4
11 hypertrichosis 10.2
12 posttransplant acute limbic encephalitis 10.2
13 netherton syndrome 10.1
14 ataxia and polyneuropathy, adult-onset 10.1
15 yemenite deaf-blind hypopigmentation syndrome 10.1
16 rapidly involuting congenital hemangioma 10.1
17 ectropion 10.1
18 optic nerve disease 10.1
19 skin carcinoma 10.1
20 dystonia 10.1
21 neuropathy 10.1
22 rare genetic skin disease 10.1
23 hereditary optic neuropathy 10.1
24 erythrokeratodermia variabilis et progressiva 5 10.0
25 erythrokeratoderma 10.0
26 dowling-degos disease 1 10.0
27 keratinopathic ichthyosis 9.9 KRT10 KRT1
28 striate palmoplantar keratoderma 9.9 KRT10 KRT1
29 epidermolytic acanthoma 9.9 KRT10 KRT1
30 acanthoma 9.9 KRT10 KRT1
31 ichthyosis bullosa of siemens 9.9 KRT10 KRT1
32 skin papilloma 9.9 KRT10 KRT1
33 arts syndrome 9.9
34 allergic rhinitis 9.9
35 pollen allergy 9.9
36 brucellosis 9.9
37 squamous cell papilloma 9.9
38 inverted papilloma 9.9
39 allergic asthma 9.9
40 palmoplantar keratoderma, epidermolytic 9.9 KRT10 KRT1
41 pachyonychia congenita 1 9.9 KRT10 KRT1
42 nevus, epidermal 9.9 KRT10 KRT1
43 lichen planus 9.9 KRT10 KRT1
44 epidermolysis bullosa 9.8 KRT10 KRT1
45 epidermolysis bullosa simplex 9.8 KRT10 KRT1
46 integumentary system disease 9.8 KRT10 KRT1
47 autosomal recessive epidermolytic ichthyosis 9.8 KRT10-AS1 KRT10
48 dyskeratosis congenita 9.7 KRT10 KRT1
49 basal cell carcinoma 9.7 KRT10 KRT1
50 ichthyosis, cyclic, with epidermolytic hyperkeratosis 9.5 KRT10-AS1 KRT10 KRT1

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:

31
# Description HPO Frequency HPO Source Accession
1 hypertrichosis 31 occasional (7.5%) HP:0000998
2 clubbing 31 occasional (7.5%) HP:0001217
3 erythroderma 31 HP:0001019
4 palmoplantar hyperkeratosis 31 HP:0000972

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29
2 Erythroderma, Ichthyosiform, Congenital Reticular 29 KRT10

Anatomical Context for Erythroderma, Ichthyosiform, Congenital Reticular

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

40
Skin

Publications for Erythroderma, Ichthyosiform, Congenital Reticular

Articles related to Erythroderma, Ichthyosiform, Congenital Reticular:

(show all 28)
# Title Authors PMID Year
1
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. 61 57 6
20798280 2010
2
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. 6 61
25774499 2015
3
Reticular erythrokeratoderma: a new disorder of cornification. 57
12833406 2003
4
Congenital reticular ichthyosiform erythroderma--ichthyosis variegata: a case report and review of the literature. 57
12636020 2003
5
Unusual hyperpigmentation developing in congenital reticular ichthyosiform erythroderma (ichthyosis variegata). 57
9892962 1998
6
A case of congenital reticular ichthyosiform erythroderma--ichthyosis 'en confettis'. 57
8305756 1994
7
[Confetti ichthyosis]. 57
6529087 1984
8
Discovery of heterozygous KRT10 alterations in MAUIE cases underlines the importance of regular skin cancer screening in ichthyosis with confetti. 61
32407542 2020
9
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. 61
33081034 2020
10
Recurrent KRT10 Variant in Ichthyosis with Confetti. 61
32556352 2020
11
Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization. 61
32113649 2020
12
Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma. 61
31928837 2020
13
Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti. 61
31638346 2019
14
Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes. 61
29563344 2018
15
Ichthyosis with Confetti Inherited from a Mosaic Father. 61
29135017 2018
16
Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy. 61
28944608 2017
17
Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10. 61
28556375 2017
18
Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1. 61
27283508 2016
19
Expanding the Mutation Spectrum of Ichthyosis with Confetti. 61
27664712 2016
20
Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation. 61
27208707 2016
21
Ichthyosis with confetti: clinics, molecular genetics and management. 61
26381864 2015
22
Recent advances in congenital ichthyoses. 61
26164154 2015
23
Phenotypic expansion in ichthyosis with confetti. 61
25210951 2015
24
The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome. 61
25210931 2015
25
Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10. 61
24626314 2014
26
Ichthyosis with confetti: a rare diagnosis and treatment plan. 61
25012887 2014
27
Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy. 61
23021371 2012
28
Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation. 61
21929535 2012

Variations for Erythroderma, Ichthyosiform, Congenital Reticular

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT10 NM_000421.4(KRT10):c.1560_1561del (p.Gly521fs) Deletion Pathogenic 14584 rs267607384 GRCh37: 17:38975226-38975227
GRCh38: 17:40818974-40818975
2 KRT10 NM_000421.4(KRT10):c.1449dup (p.Gly484fs) Duplication Pathogenic 14583 rs587776817 GRCh37: 17:38975337-38975338
GRCh38: 17:40819085-40819086
3 KRT1 NM_006121.4(KRT1):c.1865dup (p.Val623fs) Duplication Pathogenic 548649 rs1555171158 GRCh37: 12:53069046-53069047
GRCh38: 12:52675262-52675263
4 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.1374-2A>G SNV Pathogenic 14581 rs587776815 GRCh37: 17:38975415-38975415
GRCh38: 17:40819163-40819163
5 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.1373+1G>A SNV Pathogenic 14582 rs587776816 GRCh37: 17:38975768-38975768
GRCh38: 17:40819516-40819516
6 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.466C>T (p.Arg156Cys) SNV Pathogenic 14576 rs58852768 GRCh37: 17:38978372-38978372
GRCh38: 17:40822120-40822120

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 KRT10 KRT1

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 KRT10 KRT1
2 cornified envelope GO:0001533 8.62 KRT10 KRT1

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 KRT10 KRT1
2 cornification GO:0070268 9.16 KRT10 KRT1
3 peptide cross-linking GO:0018149 8.96 KRT10 KRT1
4 protein heterotetramerization GO:0051290 8.62 KRT10 KRT1

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 8.96 KRT10 KRT1
2 structural constituent of epidermis GO:0030280 8.62 KRT10 KRT1

Sources for Erythroderma, Ichthyosiform, Congenital Reticular

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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