MCID: EPD002
MIFTS: 50

Epidermolytic Hyperkeratosis malady

Categories: Genetic diseases (common), Skin diseases

Aliases & Classifications for Epidermolytic Hyperkeratosis

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Aliases & Descriptions for Epidermolytic Hyperkeratosis:

Name: Epidermolytic Hyperkeratosis 49 10 11 23 12 67
Bullous Congenital Ichthyosiform Erythroderma 10 23 47 67
Bullous Ichthyosiform Erythroderma 10 23 67
Hyperkeratosis, Epidermolytic 23 36 65
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 23 67
Bullous Erythroderma Ichthyosiforme 23 24
 
Bcie 23 67
Bie 23 67
Ehk 23 67
Epidermolytic Palmoplantar Hyperkeratosis 10
Epidermolytic Hyperkeratosis Late-Onset 67
Epidermolytic Ichthyosis 23

Characteristics:

HPO:

61
epidermolytic hyperkeratosis:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 113800
Disease Ontology10 DOID:4603
ICD1027 Q80.3
MeSH36 D017488
NCIt42 C62569
UMLS65 C0079153

Summaries for Epidermolytic Hyperkeratosis

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OMIM:49 Epidermolytic hyperkeratosis (EHK), also termed bullous congenital ichthyosiform erythroderma (BCIE), is a... (113800) more...

MalaCards based summary: Epidermolytic Hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is related to palmoplantar keratoderma, epidermolytic and ichthyosis, cyclic, with epidermolytic hyperkeratosis, and has symptoms including scaling skin, abnormal blistering of the skin and erythroderma. An important gene associated with Epidermolytic Hyperkeratosis is KRT10 (Keratin 10), and among its related pathways is Cytoskeleton remodeling Neurofilaments. The drugs eucerin and eucerite have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and b cells.

UniProtKB/Swiss-Prot:67 Epidermolytic hyperkeratosis: An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop.

Genetics Home Reference:23 Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).

Wikipedia:68 Epidermolytic hyperkeratosis, (also known as Bullous congenital ichthyosiform erythroderma,Bullous... more...

Related Diseases for Epidermolytic Hyperkeratosis

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Diseases in the Epidermolytic Hyperkeratosis family:

Krt1-Related Epidermolytic Hyperkeratosis Krt10-Related Epidermolytic Hyperkeratosis

Diseases related to Epidermolytic Hyperkeratosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1palmoplantar keratoderma, epidermolytic29.7AQP5, FLG, KRT1, KRT10, KRT16, KRT9
2ichthyosis, cyclic, with epidermolytic hyperkeratosis27.7ABCA12, AQP5, FLG, KRT1, KRT10, KRT16
3krt1-related epidermolytic hyperkeratosis12.1
4krt10-related epidermolytic hyperkeratosis12.1
5epidermolytic ichthyosis11.5
6ichthyosis bullosa of siemens10.7
7frontotemporal lobar degeneration with ubiquitin-positive inclusions10.6KRT1, KRT10
8telangiectasia, hereditary hemorrhagic, type 210.6KRT1, KRT2
9palmoplantar keratoderma, nonepidermolytic10.6KRT1, KRT9
10white sponge nevus 110.6KRT1, KRT9
11sclerosteosis 110.5KRT10, KRT16
12pilar sheath acanthoma10.5KRT10, KRT5
13braddock syndrome10.5FLG, KRT1
14pre-descemet corneal dystrophy10.5KRT2, KRT5
15nasal cavity squamous cell carcinoma10.5KRT10, KRT5
16sarcomatoid mesothelioma10.4KRT10, KRT5
17venous hemangioma10.4FLG, KRT10
18clove syndrome, somatic10.4KRT10, KRT5
19retinitis pigmentosa 3010.4KRT1, KRT10, KRT16
20acantholytic acanthoma10.4KRT1, KRT10, KRT9
21ichthyosis histrix, curth-macklin type10.4KRT1, KRT10, KRT9
22perineurioma10.4KRT10, KRT5
23drug psychosis10.3KRT1, KRT10, KRT9
24hypertensive heart disease10.3KRT16, KRT6A
25histoplasmosis10.3FLG, KRT5
26vulvar clear cell hidradenocarcinoma10.3KRT1, KRT10, KRT5
27congenital ichthyosiform erythroderma10.3
28vulvar sarcoma10.3KRT10, KRT5
29keratosis palmoplantaris striata iii10.3KRT1, KRT16, KRT9
30retinal cancer10.3KRT1, KRT10, KRT5
31epidermolysis bullosa10.2
32leukemoid reaction10.2KRT1, KRT5
33skin squamous cell carcinoma10.2FLG, KRT10, KRT16
34factitious disorder10.2KRT10, KRT16, KRT6A
35keratosis10.1
36basal cell carcinoma10.1
37epidermolysis bullosa simplex10.1
38penis carcinoma in situ10.1FLG, LOR
39malouf syndrome10.1LOR, TGM1
40long bone adamantinoma10.1FLG, KRT16
41epidermal nevus, somatic10.1
42palmoplantar keratoderma, bothnian type10.1
43bart-pumphrey syndrome10.0LOR, TGM1
44epilepsy benign neonatal dominant form10.0FLG, KRT1, KRT10, KRT2
45hepatitis c virus10.0
46pityriasis rubra pilaris10.0
47acne10.0
48hepatitis10.0
49skin disease10.0
50rickets10.0

Graphical network of the top 20 diseases related to Epidermolytic Hyperkeratosis:



Diseases related to epidermolytic hyperkeratosis

Symptoms for Epidermolytic Hyperkeratosis

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Symptoms by clinical synopsis from OMIM:

113800

Clinical features from OMIM:

113800

HPO human phenotypes related to Epidermolytic Hyperkeratosis:

id Description Frequency HPO Source Accession
1 scaling skin HP:0040189
2 abnormal blistering of the skin HP:0008066
3 erythroderma HP:0001019
4 palmoplantar hyperkeratosis HP:0000972

UMLS symptoms related to Epidermolytic Hyperkeratosis:


scaly skin

Drugs & Therapeutics for Epidermolytic Hyperkeratosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1National Registry for Ichthyosis and Related DisordersActive, not recruitingNCT00074685

Search NIH Clinical Center for Epidermolytic Hyperkeratosis

Inferred drug relations via UMLS65/NDF-RT43:


Cochrane evidence based reviews: hyperkeratosis, epidermolytic

Genetic Tests for Epidermolytic Hyperkeratosis

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Anatomical Context for Epidermolytic Hyperkeratosis

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MalaCards organs/tissues related to Epidermolytic Hyperkeratosis:

33
Skin, Breast, B cells, Heart, Endothelial, Placenta, Prostate

Animal Models for Epidermolytic Hyperkeratosis or affiliated genes

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Publications for Epidermolytic Hyperkeratosis

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Articles related to Epidermolytic Hyperkeratosis:

(show top 50)    (show all 146)
idTitleAuthorsYear
1
S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis. (26373619)
2015
2
Systematized linear epidermolytic hyperkeratosis. (24456951)
2014
3
Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis. (21463361)
2012
4
A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1). (22250628)
2012
5
Incidental cutaneous reaction patterns: epidermolytic hyperkeratosis, acantholytic dyskeratosis, and hailey-hailey-like acantholysis: a potential marker of premalignant skin change. (21773039)
2011
6
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. (21772595)
2011
7
Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids. (22068776)
2011
8
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation. (21496707)
2011
9
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. (19474805)
2009
10
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. (18571597)
2008
11
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. (18261139)
2008
12
Epidermolytic hyperkeratosis. (16962021)
2006
13
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. (17101470)
2006
14
A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis. (16677804)
2006
15
Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1. (15663507)
2005
16
Incidental epidermolytic hyperkeratosis and focal acantholytic dyskeratosis in common acquired melanocytic nevi and atypical melanocytic lesions. (14988681)
2004
17
Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients. (12234709)
2002
18
Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression. (11558869)
2001
19
A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis. (10084317)
1999
20
Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1. (10053007)
1999
21
A novel substitution in keratin 10 in epidermolytic hyperkeratosis. (10201536)
1999
22
Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene. (10597140)
1999
23
Normal ultrastructure, but altered stratum corneum lipid and protein composition in a mouse model for epidermolytic hyperkeratosis. (10469329)
1999
24
Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis. (9742571)
1998
25
Epidermolytic hyperkeratosis in the lower female genital tract: an uncommon simulant of mucocutaneous papillomavirus infection--a report of two cases. (9100071)
1997
26
Oral erosive lichen planus with epidermolytic hyperkeratosis during interferon alfa-2b therapy for chronic hepatitis C virus infection. (9204077)
1997
27
A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis. (8751983)
1996
28
Epidermolytic hyperkeratosis of the nails in keratosis palmoplantaris nummularis. (8615066)
1995
29
Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. (7523529)
1994
30
Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations. (7513736)
1994
31
Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. (7507151)
1994
32
Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. (7507150)
1994
33
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. (7512983)
1994
34
Incidental epidermolytic hyperkeratosis in progressive systemic sclerosis. (8478498)
1993
35
Acral epidermolytic hyperkeratosis. (8471521)
1993
36
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. (7509230)
1993
37
Epidermolytic hyperkeratosis treated with etretinate. (2070649)
1991
38
Congenital epidermolytic hyperkeratosis associated with multiple malignancies. (2700664)
1989
39
Leukoplakia of the prepuce with epidermolytic hyperkeratosis: a case report. (6198860)
1983
40
Long-term oral treatment of two pronounced ichthyotic conditions: lamellar ichthyosis and epidermolytic hyperkeratosis with the aromatic retinoid, Tigason (RO 10-9359). (6197852)
1983
41
Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy. (6985700)
1980
42
Oral retinoid (Ro 10-9359) in children with lamellar ichthyosis, epidermolytic hyperkeratosis and symmetrical progressive erythrokeratoderma. (6449393)
1980
43
Nevoid follicular epidermolytic hyperkeratosis. (123434)
1975
44
Familial congenital epidermolytic hyperkeratosis confined to the palms and soles. (4277481)
1974
45
Combined epidermolytic hyperkeratosis and focal acantholytic dyskeratosis. (4814939)
1974
46
Proceedings: Epidermolytic hyperkeratosis. (4764717)
1973
47
Epidermolytic hyperkeratosis. Effect of tretinoin therapy on the clinical course and the basic defects in the stratum corneum. (4697685)
1973
48
Congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). (4247929)
1970
49
Histopathologic concept of epidermolytic hyperkeratosis. (5456015)
1970
50
Epidermolytic hyperkeratosis. (5350420)
1969

Variations for Epidermolytic Hyperkeratosis

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UniProtKB/Swiss-Prot genetic disease variations for Epidermolytic Hyperkeratosis:

67 (show all 31)
id Symbol AA change Variation ID SNP ID
1KRT10p.Asn154HisVAR_003826rs57784225
2KRT10p.Arg156HisVAR_003827rs58075662
3KRT10p.Arg156CysVAR_003828
4KRT10p.Arg156ProVAR_003829
5KRT10p.Arg156SerVAR_003830rs58852768
6KRT10p.Tyr160AspVAR_003831rs58414354
7KRT10p.Leu161SerVAR_003832rs60118264
8KRT10p.Leu442GlnVAR_003833rs58026994
9KRT10p.Met150ArgVAR_010506rs58901407
10KRT10p.Met150ThrVAR_010507
11KRT10p.Tyr160AsnVAR_010508
12KRT10p.Tyr160SerVAR_010509rs58735429
13KRT10p.Lys439GluVAR_010510rs61434181
14KRT10p.Tyr449CysVAR_071985
15KRT1p.Val155GlyVAR_003853rs57959072
16KRT1p.Leu161ProVAR_003854rs57695159
17KRT1p.Ser186ProVAR_003855rs60022878
18KRT1p.Asn188SerVAR_003856rs58928370
19KRT1p.Ser193ProVAR_003857rs60937700
20KRT1p.Glu490GlnVAR_003861rs60279707
21KRT1p.Val155AspVAR_017820
22KRT1p.Asn188LysVAR_017821rs59429455
23KRT1p.Asn188ThrVAR_017822
24KRT1p.Leu214ProVAR_017823rs61549035
25KRT1p.Asp340ValVAR_017824rs58062863
26KRT1p.Ile479ThrVAR_017826rs57837128
27KRT1p.Tyr482CysVAR_017827rs58420087
28KRT1p.Leu486ProVAR_017828rs56914602
29KRT1p.Glu478GlnVAR_071986
30KRT1p.Leu485ProVAR_071987
31KRT1p.Glu490LysVAR_071988

Clinvar genetic disease variations for Epidermolytic Hyperkeratosis:

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1KRT10KRT10, ARG10HISsingle nucleotide variantPathogenic
2NM_000421.3(KRT10): c.482T> C (p.Leu161Ser)single nucleotide variantPathogenicrs60118264GRCh37Chr 17, 38978356: 38978356
3KRT10KRT10, ARG10LEUundetermined variantPathogenic
4NM_000421.3(KRT10): c.460A> C (p.Asn154His)single nucleotide variantPathogenicrs57784225GRCh37Chr 17, 38978378: 38978378
5NM_000421.3(KRT10): c.478T> G (p.Tyr160Asp)single nucleotide variantPathogenicrs58414354GRCh37Chr 17, 38978360: 38978360
6NM_000421.3(KRT10): c.467G> A (p.Arg156His)single nucleotide variantPathogenicrs58075662GRCh37Chr 17, 38978371: 38978371
7KRT10KRT10, ARG10CYSundetermined variantPathogenic
8NM_000421.3(KRT10): c.1325T> A (p.Leu442Gln)single nucleotide variantPathogenicrs58026994GRCh37Chr 17, 38975817: 38975817
9NM_000421.3(KRT10): c.466C> T (p.Arg156Cys)single nucleotide variantPathogenicrs58852768GRCh37Chr 17, 38978372: 38978372
10NM_000421.3(KRT10): c.449T> G (p.Met150Arg)single nucleotide variantPathogenicrs58901407GRCh37Chr 17, 38978389: 38978389
11NM_000421.3(KRT10): c.1315A> G (p.Lys439Glu)single nucleotide variantPathogenicrs61434181GRCh37Chr 17, 38975827: 38975827
12NM_000421.3(KRT10): c.449T> C (p.Met150Thr)single nucleotide variantPathogenicrs58901407GRCh37Chr 17, 38978389: 38978389
13KRT1NM_006121.3(KRT1): c.931G> C (p.Glu311Gln)single nucleotide variantPathogenicrs137853224GRCh37Chr 12, 53071466: 53071466
14KRT1NM_006121.3(KRT1): c.482T> C (p.Leu161Pro)single nucleotide variantPathogenicrs57695159GRCh37Chr 12, 53073651: 53073651
15KRT1NM_006121.3(KRT1): c.1445A> G (p.Tyr482Cys)single nucleotide variantPathogenicrs58420087GRCh37Chr 12, 53070089: 53070089
16KRT1NM_006121.3(KRT1): c.464T> A (p.Val155Asp)single nucleotide variantPathogenicrs57959072GRCh37Chr 12, 53073669: 53073669
17KRT1NM_006121.3(KRT1): c.564C> A (p.Asn188Lys)single nucleotide variantPathogenicrs59429455GRCh37Chr 12, 53073569: 53073569
18KRT1NM_006121.3(KRT1): c.1424T> C (p.Leu475Pro)single nucleotide variantPathogenicrs137853225GRCh37Chr 12, 53070110: 53070110
19NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter)single nucleotide variantPathogenicrs60035576GRCh37Chr 17, 38975842: 38975842
20NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter)single nucleotide variantPathogenicrs387906640GRCh37Chr 17, 38975861: 38975861
21KRT10KRT10, 1-BP INS, 1325CinsertionPathogenic
22KRT10KRT10, IVS5DS, G-A, +5single nucleotide variantPathogenic

Expression for genes affiliated with Epidermolytic Hyperkeratosis

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Search GEO for disease gene expression data for Epidermolytic Hyperkeratosis.

Pathways for genes affiliated with Epidermolytic Hyperkeratosis

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Pathways related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.6KRT1, KRT16, KRT2, KRT5, KRT6A

GO Terms for genes affiliated with Epidermolytic Hyperkeratosis

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Cellular components related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.6KRT10, KRT2, KRT9
2keratin filamentGO:00450958.9KRT1, KRT2, KRT5, KRT6A

Biological processes related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeleton organizationGO:00451049.2KRT16, KRT6A
2keratinocyte differentiationGO:00302168.9ABCA12, TGM1
3establishment of skin barrierGO:00614368.9ABCA12, FLG, KRT16

Molecular functions related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051988.7FLG, KRT16, KRT6A, LOR

Sources for Epidermolytic Hyperkeratosis

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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