IWC
MCID: ICH031
MIFTS: 41

Ichthyosis with Confetti (IWC)

Categories: Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ichthyosis with Confetti

MalaCards integrated aliases for Ichthyosis with Confetti:

Name: Ichthyosis with Confetti 57 42 58 73 12 75
Congenital Reticular Ichthyosiform Erythroderma 42 58 28 5 71
Crie 57 42 58 73
Iwc 57 42 58 73
Erythroderma, Ichthyosiform, Congenital Reticular 57 73 38
Ichthyosis Variegata 42 58 73
Erythrokeratoderma, Reticular 28 71
Ichthyosis Variegata Micropinnae, Alopecia Universalis, Congenital Ichthyosis, and Ectropion 57
Reticular Erythrokeratoderma 73
Mauie Syndrome 57
Aarau Disease 73
Mauie 57

Characteristics:


Inheritance:

Ichthyosis with Confetti: Autosomal dominant 57
Congenital Reticular Ichthyosiform Erythroderma: Autosomal dominant 58

Prevelance:

Congenital Reticular Ichthyosiform Erythroderma: <1/1000000 (Worldwide) 58

Age Of Onset:

Congenital Reticular Ichthyosiform Erythroderma: Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
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


Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Ichthyosis with Confetti

MedlinePlus Genetics: 42 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: Ichthyosis with Confetti, also known as congenital reticular ichthyosiform erythroderma, is related to ichthyosis and palmoplantar keratosis. An important gene associated with Ichthyosis with Confetti is KRT10 (Keratin 10), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin, breast and lung, and related phenotypes are nystagmus and short stature

OMIM®: 57 Ichthyosis with confetti (IWC), also known as congenital reticular ichthyosiform erythroderma (CRIE), 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 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 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: 75 Ichthyosis en confetti, is a very rare form of congenital ichthyosis in which healthy patches of normal... more...

Related Diseases for Ichthyosis with Confetti

Diseases related to Ichthyosis with Confetti via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 ichthyosis 30.7 KRT10 KRT1
2 palmoplantar keratosis 30.0 KRT10 KRT1
3 autosomal recessive congenital ichthyosis 29.9 KRT10 KRT1
4 autosomal dominant epidermolytic ichthyosis 29.8 KRT10 KRT1
5 ichthyosis vulgaris 29.6 KRT10 KRT1
6 erythrokeratodermia variabilis et progressiva 1 29.6 KRT10 KRT1
7 papilloma 29.5 KRT10 KRT1
8 epidermolytic hyperkeratosis 29.4 KRT10-AS1 KRT10 KRT1
9 keratinopathic ichthyosis 11.1
10 skin disease 10.5
11 erythrokeratoderma ''en cocardes'' 10.4
12 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
13 hypertrichosis 10.2
14 posttransplant acute limbic encephalitis 10.2
15 dowling-degos disease 1 10.2
16 netherton syndrome 10.1
17 neurodegeneration with brain iron accumulation 2a 10.1
18 leber hereditary optic neuropathy, modifier of 10.1
19 vohwinkel syndrome, variant form 10.1
20 rapidly involuting congenital hemangioma 10.1
21 ectropion 10.1
22 optic nerve disease 10.1
23 skin carcinoma 10.1
24 dystonia 10.1
25 neuropathy 10.1
26 rare genetic skin disease 10.1
27 hereditary optic neuropathy 10.1
28 erythrokeratoderma 10.1
29 arthrogryposis, renal dysfunction, and cholestasis 1 9.9
30 arts syndrome 9.9
31 allergic rhinitis 9.9
32 brucellosis 9.9
33 inverted papilloma 9.9
34 allergic asthma 9.9
35 chronic bilirubin encephalopathy 9.9
36 acanthoma 9.8 KRT10 KRT1
37 keratosis 9.8 KRT10 KRT1
38 ichthyosis bullosa of siemens 9.8 KRT10 KRT1
39 toxicodendron dermatitis 9.8 KRT10 KRT1
40 skin papilloma 9.7 KRT10 KRT1
41 recessive dystrophic epidermolysis bullosa 9.7 KRT10 KRT1
42 epidermolysis bullosa 9.7 KRT10 KRT1
43 palmoplantar keratoderma, epidermolytic 9.7 KRT10 KRT1
44 ichthyosis, congenital, autosomal recessive 4b 9.7 KRT10 KRT1
45 trichothiodystrophy 1, photosensitive 9.7 KRT10 KRT1
46 pachyonychia congenita 1 9.7 KRT10 KRT1
47 nevus, epidermal 9.7 KRT10 KRT1
48 porokeratosis 9.7 KRT10 KRT1
49 lichen planus 9.6 KRT10 KRT1
50 junctional epidermolysis bullosa 9.6 KRT10 KRT1

Graphical network of the top 20 diseases related to Ichthyosis with Confetti:



Diseases related to Ichthyosis with Confetti

Symptoms & Phenotypes for Ichthyosis with Confetti

Human phenotypes related to Ichthyosis with Confetti:

30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 30 Very rare (1%) HP:0000639
2 short stature 30 Very rare (1%) HP:0004322
3 strabismus 30 Very rare (1%) HP:0000486
4 decreased body weight 30 Very rare (1%) HP:0004325
5 hypoplastic nipples 30 Very rare (1%) HP:0002557
6 ectropion 30 Very rare (1%) HP:0000656
7 pruritus 30 Very rare (1%) HP:0000989
8 erythroderma 30 Very rare (1%) HP:0001019
9 congenital nonbullous ichthyosiform erythroderma 30 Very rare (1%) HP:0007479
10 palmoplantar hyperkeratosis 30 Very rare (1%) HP:0000972
11 hypertrichosis 30 Very rare (1%) HP:0000998
12 scaling skin 30 Very rare (1%) HP:0040189

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Ears:
microtia
malformed ears

Head And Neck Eyes:
ectropion
scant eyebrows
scant eyelashes

Skin Nails Hair Skin Histology:
parakeratosis
acanthosis
absence of stratum granulosum
retained nuclei in stratum corneum
perinuclear vacuolization

Skeletal:
joint contractures (in some patients)

Growth Height:
short for age

Head And Neck Teeth:
poor dentition (in some patients)

Chest Breasts:
hypoplastic nipples

Skin Nails Hair Skin:
palmoplantar hyperkeratosis
collodion membrane at birth (in some patients)
scaling of scalp
erythematous ichthyotic skin with reticulate pattern (of varying severity)
numerous 'confetti-like' scattered patches of normal skin
more
Skin Nails Hair Hair:
scant eyebrows
scant eyelashes
alopecia universalis (in some patients)
hypertrichosis (limited to ichthyotic skin)
hypertrichosis (dorsal acral)

Skin Nails Hair Nails:
clubbing (rare)
large lunulae
long nail plates

Growth Weight:
low weight for age

Immunology:
susceptibility to bacterial infections due to poor skin integrity

Clinical features from OMIM®:

609165 (Updated 24-Oct-2022)

Drugs & Therapeutics for Ichthyosis with Confetti

Search Clinical Trials, NIH Clinical Center for Ichthyosis with Confetti

Genetic Tests for Ichthyosis with Confetti

Genetic tests related to Ichthyosis with Confetti:

# Genetic test Affiliating Genes
1 Erythrokeratoderma, Reticular 28
2 Congenital Reticular Ichthyosiform Erythroderma 28 KRT10

Anatomical Context for Ichthyosis with Confetti

Organs/tissues related to Ichthyosis with Confetti:

MalaCards : Skin, Breast, Lung

Publications for Ichthyosis with Confetti

Articles related to Ichthyosis with Confetti:

(show top 50) (show all 190)
# Title Authors PMID Year
1
Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation. 62 57 5
27208707 2016
2
The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome. 62 57 5
25210931 2015
3
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. 62 57 5
20798280 2010
4
Skin cancer associated with ichthyosis: the MAUIE syndrome. 62 57 5
9418775 1997
5
Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing. 57 5
27291450 2017
6
Increased incidence of cutaneous carcinomas in patients with congenital ichthyosis. 57 5
7593802 1995
7
Discovery of heterozygous KRT10 alterations in MAUIE cases underlines the importance of regular skin cancer screening in ichthyosis with confetti. 62 5
32407542 2020
8
Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti. 62 5
31638346 2019
9
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. 62 57
26581228 2016
10
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. 62 5
25774499 2015
11
Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10. 62 57
24626314 2014
12
Reticular erythrokeratoderma: a new disorder of cornification. 62 57
12833406 2003
13
Congenital reticular ichthyosiform erythroderma--ichthyosis variegata: a case report and review of the literature. 62 57
12636020 2003
14
Unusual hyperpigmentation developing in congenital reticular ichthyosiform erythroderma (ichthyosis variegata). 62 57
9892962 1998
15
A case of congenital reticular ichthyosiform erythroderma--ichthyosis 'en confettis'. 62 57
8305756 1994
16
[Congenital reticular ichthyosiform erythroderma]. 62 57
6500934 1984
17
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
18
[Confetti ichthyosis]. 57
6529087 1984
19
Evaluation of quality and readability of over-the-counter medication package inserts. 62
35379561 2022
20
Telemedicine in the National Immunization Program (Brazil): A promising tool. 62
35783330 2022
21
Case of ichthyosis with confetti caused by KRT10 mutation, complicated with multiple malignant melanomas. 62
35253938 2022
22
Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review. 62
35172852 2022
23
Adverse events following immunization of elderly with COVID-19 inactivated virus vaccine (CoronaVac) in Southeastern Brazil: an active surveillance study. 62
36197371 2022
24
Assessing Communicative Effectiveness of Public Health Information in Chinese: Developing Automatic Decision Aids for International Health Professionals. 62
34639643 2021
25
Evaluation of the quality and readability of online information about breast cancer in China. 62
32988687 2021
26
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. 62
33081034 2020
27
Recurrent KRT10 Variant in Ichthyosis with Confetti. 62
32556352 2020
28
The effects of a comprehensive rehabilitation and intensive education program on anxiety, depression, quality of life, and major adverse cardiac and cerebrovascular events in unprotected left main coronary artery disease patients who underwent coronary artery bypass grafting. 62
31758523 2020
29
Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization. 62
32113649 2020
30
Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma. 62
31928837 2020
31
Intra-erythrocyte chromium as an indicator of exposure to hexavalent chromium: An in vivo evaluation in intravenous administered rat. 62
31325633 2019
32
Prospective cohort studies to evaluate the safety and immunogenicity of the 2013, 2014, and 2015 seasonal influenza vaccines produced by Instituto Butantan. 62
30066805 2018
33
Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes. 62
29563344 2018
34
[Experience of application of the PCR for identification of the causative agent of community acquired pneumonia in the military.] 62
30768887 2018
35
Ichthyosis with Confetti Inherited from a Mosaic Father. 62
29135017 2018
36
Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy. 62
28944608 2017
37
Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10. 62
28556375 2017
38
Effects of prostaglandin E1 on reperfusion injury patients: A meta-analysis of randomized controlled trials. 62
28403095 2017
39
CRIE: An automated analyzer for Chinese texts. 62
26424442 2016
40
Expanding the Mutation Spectrum of Ichthyosis with Confetti. 62
27664712 2016
41
Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1. 62
27283508 2016
42
Congenital reticular ichthyosiform erythroderma. 62
26801004 2016
43
[CHARACTERISTICS OF BIOLOGICAL AND MOLECULAR-GENETIC PROPERTIES OF LACTOBACILLUS FERMENTUM 90 TC-4 PROBIOTIC STRAIN]. 62
27228666 2016
44
[ADENOVIRUSES IN THE ETIOLOGICAL STRUCTURE OF ACUTE RESPIRATORY VIRAL INFECTION IN MOSCOW IN 2004 - 2014]. 62
26829854 2015
45
Ichthyosis with confetti: clinics, molecular genetics and management. 62
26381864 2015
46
Recent advances in congenital ichthyoses. 62
26164154 2015
47
Phenotypic expansion in ichthyosis with confetti. 62
25210951 2015
48
Ichthyosis with confetti: a rare diagnosis and treatment plan. 62
25012887 2014
49
Effective electrocatalysis based on Ag2O nanowire arrays supported on a copper substrate. 62
23978111 2013
50
Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy. 62
23021371 2012

Variations for Ichthyosis with Confetti

ClinVar genetic disease variations for Ichthyosis with Confetti:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.1374-2A>G SNV Pathogenic
14581 rs587776815 GRCh37: 17:38975415-38975415
GRCh38: 17:40819163-40819163
2 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.1373+1G>A SNV Pathogenic
14582 rs587776816 GRCh37: 17:38975768-38975768
GRCh38: 17:40819516-40819516
3 KRT10 NM_000421.5(KRT10):c.1449dup (p.Gly484fs) DUP Pathogenic
14583 rs587776817 GRCh37: 17:38975337-38975338
GRCh38: 17:40819085-40819086
4 KRT10 NM_000421.5(KRT10):c.1560_1561del (p.Gly521fs) DEL Pathogenic
14584 rs267607384 GRCh37: 17:38975226-38975227
GRCh38: 17:40818974-40818975
5 KRT1 NM_006121.4(KRT1):c.1865dup (p.Val623fs) DUP Pathogenic
548649 rs1555171158 GRCh37: 12:53069046-53069047
GRCh38: 12:52675262-52675263
6 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.1374-1G>C SNV Pathogenic
1236189 GRCh37: 17:38975414-38975414
GRCh38: 17:40819162-40819162
7 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.1373+1del DEL Pathogenic
1236190 GRCh37: 17:38975768-38975768
GRCh38: 17:40819516-40819516
8 KRT10 NM_000421.5(KRT10):c.1403_1417delinsA (p.Ser468fs) INDEL Pathogenic
1236191 GRCh37: 17:38975370-38975384
GRCh38: 17:40819118-40819132
9 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.470T>C (p.Leu157Pro) SNV Pathogenic
1299620 GRCh37: 17:38978368-38978368
GRCh38: 17:40822116-40822116
10 KRT10-AS1, KRT10 NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) SNV Pathogenic
14576 rs58852768 GRCh37: 17:38978372-38978372
GRCh38: 17:40822120-40822120
11 KRT10 NM_000421.5(KRT10):c.1459C>T (p.His487Tyr) SNV Benign
1300082 rs17855579 GRCh37: 17:38975328-38975328
GRCh38: 17:40819076-40819076

Expression for Ichthyosis with Confetti

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

Pathways for Ichthyosis with Confetti

Pathways related to Ichthyosis with Confetti according to GeneCards Suite gene sharing:

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

GO Terms for Ichthyosis with Confetti

Cellular components related to Ichthyosis with Confetti according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.33 KRT10 KRT1
2 keratin filament GO:0045095 9.26 KRT10 KRT1
3 cornified envelope GO:0001533 8.92 KRT10 KRT1

Biological processes related to Ichthyosis with Confetti according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide cross-linking GO:0018149 9.26 KRT10 KRT1
2 protein heterotetramerization GO:0051290 8.92 KRT10 KRT1

Molecular functions related to Ichthyosis with Confetti according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of skin epidermis GO:0030280 8.92 KRT10 KRT1

Sources for Ichthyosis with Confetti

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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