MCID: ICH031
MIFTS: 26

Ichthyosis with Confetti malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Ichthyosis with Confetti

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Aliases & Descriptions for Ichthyosis with Confetti:

Name: Ichthyosis with Confetti 52 25 54 70 12
Congenital Reticular Ichthyosiform Erythroderma 25 54 27 68
Ichthyosis Variegata 25 54 70
Crie 25 54 70
Iwc 25 54 70
 
Erythroderma, Ichthyosiform, Congenital Reticular 52 70
Erythrokeratoderma, Reticular 68
Reticular Erythrokeratoderma 70
Aarau Disease 70

Characteristics:

Orphanet epidemiological data:

54
ichthyosis with confetti:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

64
ichthyosis with confetti:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 609165
Orphanet54 ORPHA281190
MeSH39 D016113

Summaries for Ichthyosis with Confetti

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OMIM:52 Congenital reticular ichthyosiform erythroderma (CRIE), also known as ichthyosis with confetti (IWC), is a rare skin... (609165) more...

MalaCards based summary: Ichthyosis with Confetti, also known as congenital reticular ichthyosiform erythroderma, is related to ebola hemorrhagic fever and ichthyosis histrix, curth-macklin type, and has symptoms including hypertrichosis, clubbing and palmoplantar hyperkeratosis. An important gene associated with Ichthyosis with Confetti is KRT10 (Keratin 10). Affiliated tissues include skin.

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:70 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:71 Ichthyosis en confetti, also known as ichthyosis with confetti, congenital reticular ichthyosiform... more...

Related Diseases for Ichthyosis with Confetti

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Graphical network of diseases related to Ichthyosis with Confetti:



Diseases related to ichthyosis with confetti

Symptoms & Phenotypes for Ichthyosis with Confetti

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Symptoms by clinical synopsis from OMIM:

609165

Clinical features from OMIM:

609165

Human phenotypes related to Ichthyosis with Confetti:

 64
id Description HPO Frequency HPO Source Accession
1 hypertrichosis64 rare (5%) HP:0000998
2 clubbing64 rare (5%) HP:0001217
3 palmoplantar hyperkeratosis64 HP:0000972
4 erythroderma64 HP:0001019

Drugs & Therapeutics for Ichthyosis with Confetti

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ichthyosis with Confetti

Genetic Tests for Ichthyosis with Confetti

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Genetic tests related to Ichthyosis with Confetti:

id Genetic test Affiliating Genes
1 Erythroderma, Ichthyosiform, Congenital Reticular27

Anatomical Context for Ichthyosis with Confetti

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MalaCards organs/tissues related to Ichthyosis with Confetti:

36
Skin

Publications for Ichthyosis with Confetti

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Articles related to Ichthyosis with Confetti:

idTitleAuthorsYear
1
Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation. (27208707)
2016
2
Expanding the Mutation SpectrumA ofA Ichthyosis with Confetti. (27664712)
2016
3
Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation inA KRT1. (27283508)
2016
4
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. (25774499)
2015
5
Ichthyosis with confetti: clinics, molecular genetics and management. (26381864)
2015
6
Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10. (24626314)
2014
7
Ichthyosis with confetti: a rare diagnosis and treatment plan. (25012887)
2014
8
Phenotypic Expansion in Ichthyosis With Confetti. (25210951)
2014
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)
2014
10
Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation. (21929535)
2012

Variations for Ichthyosis with Confetti

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Clinvar genetic disease variations for Ichthyosis with Confetti:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT10NM_000421.3(KRT10): c.1374-2A> GSNVPathogenicrs587776815GRCh37Chr 17, 38975415: 38975415
2KRT10NM_000421.3(KRT10): c.1373+1G> ASNVPathogenicrs587776816GRCh37Chr 17, 38975768: 38975768
3KRT10NM_000421.3(KRT10): c.1449dupC (p.Gly484Argfs)duplicationPathogenicrs587776817GRCh37Chr 17, 38975338: 38975338
4KRT10NM_000421.3(KRT10): c.1560_1561delCG (p.Gly521Profs)deletionPathogenicrs267607384GRCh37Chr 17, 38975226: 38975227

Expression for genes affiliated with Ichthyosis with Confetti

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Search GEO for disease gene expression data for Ichthyosis with Confetti.

Pathways for genes affiliated with Ichthyosis with Confetti

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GO Terms for genes affiliated with Ichthyosis with Confetti

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Sources for Ichthyosis with Confetti

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet