MCID: ICH031
MIFTS: 27

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 49 11 23 51 67
Congenital Reticular Ichthyosiform Erythroderma 23 51 65
Ichthyosis Variegata 23 51 67
Crie 23 51 67
Iwc 23 51 67
 
Erythroderma, Ichthyosiform, Congenital Reticular 67 24
Erythrokeratoderma, Reticular 65
Reticular Erythrokeratoderma 67
Aarau Disease 67

Characteristics:

Orphanet epidemiological data:

51
ichthyosis with confetti:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

61
ichthyosis with confetti:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

OMIM49 609165
Orphanet51 281190
MeSH36 D016113
UMLS65 C3665704, C1836681

Summaries for Ichthyosis with Confetti

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OMIM:49 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 obesity and atherosclerosis, 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 and endothelial.

Genetics Home Reference:23 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:67 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:68 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 the top 20 diseases related to Ichthyosis with Confetti:



Diseases related to ichthyosis with confetti

Symptoms for Ichthyosis with Confetti

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Symptoms by clinical synopsis from OMIM:

609165

Clinical features from OMIM:

609165

HPO human phenotypes related to Ichthyosis with Confetti:

id Description Frequency HPO Source Accession
1 hypertrichosis rare (5%) HP:0000998
2 clubbing rare (5%) HP:0001217
3 palmoplantar hyperkeratosis HP:0000972
4 erythroderma 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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Anatomical Context for Ichthyosis with Confetti

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MalaCards organs/tissues related to Ichthyosis with Confetti:

33
Skin, Endothelial

Animal Models for Ichthyosis with Confetti or affiliated genes

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Publications for Ichthyosis with Confetti

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Articles related to Ichthyosis with Confetti:

idTitleAuthorsYear
1
Radiation therapy communication: nasal passage and paranasal sinus lymphoma in a pony. (20166403)
2010
2
Hereditary hemochromatosis. (16891003)
2006
3
eNOS activity is reduced in senescent human endothelial cells: Preservation by hTERT immortalization. (11679409)
2001
4
Clinical and behavioural risk indicators for root caries in older people. (11794744)
2001

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
1NM_000421.3(KRT10): c.1374-2A> Gsingle nucleotide variantPathogenicrs587776815GRCh37Chr 17, 38975415: 38975415
2NM_000421.3(KRT10): c.1373+1G> Asingle nucleotide variantPathogenicrs587776816GRCh37Chr 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet