EI
MCID: EPD002
MIFTS: 62

Epidermolytic Hyperkeratosis (EI) malady

Skin category

Summaries for Epidermolytic Hyperkeratosis

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 3CDC, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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Genetics Home Reference:21 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).

MalaCards: Epidermolytic Hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is related to congenital ichthyosiform erythroderma and palmoplantar keratoderma, epidermolytic, and has symptoms including autosomal dominant inheritance, pigmented naevi/naevus pigmentosus/lentigo and ichthyosis/ichthyosiform dermatitis. An important gene associated with Epidermolytic Hyperkeratosis is KRT10 (keratin 10), and among its related pathways is Cytoskeleton remodeling Keratin filaments. The drugs eucerin and eucerite and the compounds tazarotene and isotretinoin have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are craniofacial and integument.

NIH Rare Diseases:43 Epidermolytic hyperkeratosis is a genetic skin disorder. it is characterized by widespread blistering and skin that is reddened, dry, thickened, and scaly (ichthyotic erythroderma). it is caused by mutations in the krt1 or krt10 genes. it has an autosomal dominant pattern of inheritance. last updated: 11/30/2011

CDC:3 The Epidemic Intelligence Service (EIS) is a unique 2-year post-graduate training program of service and on-the-job learning for health professionals interested in the practice of applied epidemiology.

Wikipedia:64 Epidermolytic hyperkeratosis, (also known as Bullous congenital ichthyosiform erythroderma,Bullous... more...

Description from OMIM:47 113800,607602

Aliases & Classifications for Epidermolytic Hyperkeratosis

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin


Characteristics (Orphanet epidemiological data):

49
epidermolytic hyperkeratosis:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

epidermolytic hyperkeratosis 8 9 43 21 47 10 49
bullous congenital ichthyosiform erythroderma 8 43 21 45 49 61
bullous ichthyosiform erythroderma 8 43 22 21
bcie 43 21 49
bullous erythroderma ichthyosiformis congenita of brocq 43 21
epidermolytic ichthyosis 21 49
bie 43 21
ehk 21 49
bullous congenital ichthyosiform erythroderma of brock 49
epidermolytic palmoplantar hyperkeratosis 8
bullous erythroderma ichthyosiforme 21
hyperkeratosis, epidermolytic 21
congenital ichthyosis 61
bullous ichthyosis 49
ei 49


External Ids:

Disease Ontology8 DOID:4603
NCIt40 C62569
ICD10 via Orphanet26 Q80.3
UMLS via Orphanet62 C0079153
ICD1025 Q80.3

Related Diseases for Epidermolytic Hyperkeratosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 172)
idRelated DiseaseScoreTop Affiliating Genes
1congenital ichthyosiform erythroderma30.7TGM1, LOR
2palmoplantar keratoderma, epidermolytic30.6KRT16, KRT1, KRT9
3ichthyosis, cyclic, with epidermolytic hyperkeratosis30.5KRT10, KRT1
4keratoderma30.5LOR, KRT16, KRT1, KRT9, TGM1
5ichthyosis bullosa of siemens30.5KRT2
6epidermolysis bullosa simplex30.4KRT1, KRT81, KRT2, KRT10, KRT9, KRT5
7leukoplakia30.2KRT1, FLG, IVL
8basal cell carcinoma30.2IVL, KRT16, KRT10, TCHH
9lichen planus30.2KRT10, KRT1, KRT16, IVL, FLG
10squamous cell carcinoma30.1TCHH, KRT10, KRT1, KRT5, IVL, KRT16
11alopecia29.9KRT86
12harlequin type ichthyosis29.9FLG, TGM1
13x-linked ichthyosis29.9FLG, TGM1
14ichthyosis vulgaris29.9TGM1, FLG, LOR, IVL
15autosomal recessive congenital ichthyosis10.8
16retinitis pigmentosa10.5
17internuclear ophthalmoplegia10.5
18n syndrome10.5
19retinitis pigmentosa 2510.4
20epidermal nevus10.4
21krt1-related epidermolytic hyperkeratosis10.4
22retinitis pigmentosa autosomal recessive10.4
23fibrous histiocytoma10.3
24cutaneous fibrous histiocytoma10.3
25noonan syndrome10.3
26ocular albinism10.3
27albinism10.3
28pleomorphic malignant fibrous histiocytoma10.3
29pleomorphic undifferentiated sarcoma10.3
30mental retardation10.3
31ichthyosis, congenital, autosomal recessive 110.3
32cataract and congenital ichthyosis10.3
33krt10-related epidermolytic hyperkeratosis10.3
34generalized pustular psoriasis10.3
35ichthyosis histrix, curth-macklin type10.3
36ichthyosis, congenital, autosomal recessive 210.3
37eys-related retinitis pigmentosa10.3
38ichthyosis, autosomal recessive 4b10.3
39ichthyosis, congenital, autosomal recessive 510.3
40oculocutaneous albinism10.2
41retinitis pigmentosa 610.2
42sjogren-larsson syndrome10.2
43congenital ichthyosis, microcephalus, quadriplegia10.2
44ichthyosis, congenital, autosomal recessive 4a10.2
45ichthyosis, congenital, autosomal recessive 610.2
46ichthyosis, congenital, autosomal recessive 1010.2
47ichthyosis, congenital, autosomal recessive 810.2
48ichthyosis, congenital, autosomal recessive 710.2
49ichthyosis, congenital, autosomal recessive 910.2
50ichthyosis, congenital, autosomal recessive 310.2

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



Diseases related to epidermolytic hyperkeratosis

Clinical Features for Epidermolytic Hyperkeratosis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

113800,607602

Clinical synopsis from OMIM:

113800

Symptoms:

49 (show all 10)
  • autosomal dominant inheritance
  • pigmented naevi/naevus pigmentosus/lentigo
  • ichthyosis/ichthyosiform dermatitis
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • chronic skin infection/ulcerations/ulcers/cancrum
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • palmoplantar hyperkeratosis/keratoderma
  • follicular/conjunctival hamartomas

Drugs & Therapeutics for Epidermolytic Hyperkeratosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Epidermolytic Hyperkeratosis

Drug clinical trials:

Search ClinicalTrials for Epidermolytic Hyperkeratosis

Search NIH Clinical Center for Epidermolytic Hyperkeratosis

Search CenterWatch for Epidermolytic Hyperkeratosis

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Epidermolytic Hyperkeratosis

Sources:
22GTR
See all sources

Genetic tests related to Epidermolytic Hyperkeratosis:

id Genetic test Affiliating Genes
1 Bullous Ichthyosiform Erythroderma22

Anatomical Context for Epidermolytic Hyperkeratosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Epidermolytic Hyperkeratosis:

33
Skin

Animal Models for Epidermolytic Hyperkeratosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Epidermolytic Hyperkeratosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8FLG, KRT16, KRT5, KRT2, KRT10, KRT6A
2MP:00107717.8LOR, FLG, KRT16, KRT5, KRT1, KRT2

Publications for Epidermolytic Hyperkeratosis

Sources:
51PubMed
See all sources

Articles related to Epidermolytic Hyperkeratosis:

(show top 50)    (show all 139)
idTitleAuthorsYear
1
Incidental cutaneous reaction patterns: epidermolytic hyperkeratosis, acantholytic dyskeratosis, and hailey-hailey-like acantholysis: a potential marker of premalignant skin change. (21773039)
2011
2
Localised epidermolytic hyperkeratosis of the vulva: a case of mistaken identity. (20632830)
2010
3
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. (19443303)
2009
4
Acitretin + EHK = PG: Toe web pyogenic granuloma in a man with total body epidermolytic hyperkeratosis on acitretin--report of a unique occurrence. (20102018)
2009
5
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. (18571597)
2008
6
R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis. (17683385)
2007
7
A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis. (16677804)
2006
8
Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. (16990804)
2006
9
Epidermolytic hyperkeratosis with rickets. (16707822)
2006
10
Incidental epidermolytic hyperkeratosis and focal acantholytic dyskeratosis in common acquired melanocytic nevi and atypical melanocytic lesions. (14988681)
2004
11
Linear nevus comedonicus with epidermolytic hyperkeratosis. (15239681)
2004
12
Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis. (14708600)
2003
13
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5. (12648226)
2003
14
Localized epidermolytic hyperkeratosis of the female external genitalia. (12834487)
2003
15
Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis. (12406348)
2002
16
Epidermolytic hyperkeratosis with ichthyosis hystrix. (11107513)
2000
17
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
18
Epidermolytic hyperkeratosis. (10632770)
1999
19
Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis. (10098704)
1999
20
An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis. (10232403)
1999
21
An evaluation of the effect of an alpha hydroxy acid-blend skin cream in the cosmetic improvement of symptoms of moderate to severe xerosis, epidermolytic hyperkeratosis, and ichthyosis. (9640557)
1998
22
Epidermolytic hyperkeratosis in the lower female genital tract: an uncommon simulant of mucocutaneous papillomavirus infection--a report of two cases. (9100071)
1997
23
A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis. (9184002)
1997
24
A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis. (8751983)
1996
25
A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis. (8983179)
1996
26
Incidental epidermolytic hyperkeratosis. (7695008)
1995
27
Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. (7507150)
1994
28
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. (7512983)
1994
29
Filaggrin expression in epidermolytic ichthyosis (epidermolytic hyperkeratosis). (7531997)
1994
30
Clinical heterogeneity in epidermolytic hyperkeratosis. (8053700)
1994
31
Incidental epidermolytic hyperkeratosis in progressive systemic sclerosis. (8478498)
1993
32
Acral epidermolytic hyperkeratosis. (8471521)
1993
33
Epidermolytic hyperkeratosis. (7692917)
1993
34
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. (1380725)
1992
35
A leucine-->proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. (1381288)
1992
36
Congenital epidermolytic hyperkeratosis associated with multiple malignancies. (2700664)
1989
37
Picture of the month. Epidermolytic hyperkeratosis. (3052035)
1988
38
Nevus comedonicus with epidermolytic hyperkeratosis. (3556706)
1987
39
Malignant melanoma in association with keratosis palmaris et plantaris (epidermolytic hyperkeratosis variant). (2978994)
1985
40
Epidermolytic hyperkeratosis associated with superficial basal cell carcinoma. (6824352)
1983
41
Nevus comedonicus with epidermolytic hyperkeratosis. A report of four cases. (7008704)
1981
42
Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy. (6985700)
1980
43
Oral retinoid (Ro 10-9359) in children with lamellar ichthyosis, epidermolytic hyperkeratosis and symmetrical progressive erythrokeratoderma. (6449393)
1980
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
Localized epidermolytic hyperkeratosis. A form of keratoderma of the palms and soles. (5414885)
1970
49
Congenital bullous ichthyosiform erythroderma. Epidermolytic hyperkeratosis--treatment with methotrexate. (5444075)
1970
50
An electron microscopic study of epidermolytic hyperkeratosis. With a special note on the keratinosome as the "fourth" structural factor in the formation of the horny layer. (5911501)
1966

Genetic Variations for Epidermolytic Hyperkeratosis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Epidermolytic Hyperkeratosis:

63 (show all 26)
id Symbol AA change Variation 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.Tyr160AsnVAR_010508
11KRT10p.Tyr160SerVAR_010509rs58735429
12KRT10p.Lys439GluVAR_010510rs61434181
13KRT1p.Val155GlyVAR_003853rs57959072
14KRT1p.Leu161ProVAR_003854rs57695159
15KRT1p.Ser186ProVAR_003855rs60022878
16KRT1p.Asn188SerVAR_003856rs58928370
17KRT1p.Ser193ProVAR_003857rs60937700
18KRT1p.Glu490GlnVAR_003861rs60279707
19KRT1p.Val155AspVAR_017820
20KRT1p.Asn188LysVAR_017821rs59429455
21KRT1p.Asn188ThrVAR_017822
22KRT1p.Leu214ProVAR_017823rs61549035
23KRT1p.Asp340ValVAR_017824rs58062863
24KRT1p.Ile479ThrVAR_017826rs57837128
25KRT1p.Tyr482CysVAR_017827rs58420087
26KRT1p.Leu486ProVAR_017828rs56914602

Expression for genes affiliated with Epidermolytic Hyperkeratosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Epidermolytic Hyperkeratosis

Search GEO for disease gene expression data for Epidermolytic Hyperkeratosis.

Pathways for genes affiliated with Epidermolytic Hyperkeratosis

Sources:
12EMD Millipore
See all sources

Pathways related to Epidermolytic Hyperkeratosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2KRT6A, KRT2, KRT1, KRT5, KRT16

Compounds for genes affiliated with Epidermolytic Hyperkeratosis

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Epidermolytic Hyperkeratosis according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1tazarotene45 1111.2KRT1, KRT2, KRT10
2isotretinoin45 1111.0KRT10, KRT1, KRT16
3cholesterol-sulfate45 1110.6IVL, TGM1
4monodansylcadaverine459.5TGM1, IVL
5histidine459.5LOR, FLG, KRT5, KRT10, KRT9
6collodion459.5TGM1, IVL, LOR
7epsilon-(gamma-glutamyl)lysine459.5LOR, IVL, TGM1
8arsenate459.5IVL, FLG
9acitretin45 1110.4KRT5, IVL
10vitamin a45 11 2411.2LOR, LELP1, KRT16, KRT5, TGM1
11dithranol459.2FLG, IVL, KRT16, KRT10
12ceramides459.2KRT1, IVL
13bromodeoxyuridine459.2FLG, IVL, KRT1, KRT10
14sodium dodecylsulfate459.1TGM1, KRT1, KRT16, IVL
151,25 dihydroxy vitamin d3459.1IVL, KRT16, KRT10, TGM1
16urea45 11 2411.1FLG, IVL, KRT5
17nicotine45 50 29 1112.1KRT1, IVL, FLG
18gf 109203x45 6010.1FLG, IVL, KRT10, TGM1
19hematoxylin459.1LOR, FLG, IVL, KRT1, KRT10
20paraffin458.9KRT10, KRT1, KRT5, KRT16, IVL
21calcitriol45 60 11 2411.8FLG, IVL, KRT16, KRT10, TGM1
22arginine458.7FLG, TCHH, KRT5, KRT1, KRT10, KRT9
23calcipotriol45 60 29 1111.6TGM1, FLG, IVL, KRT16, KRT5, KRT10
24glutamine458.6IVL, LELP1, KRT9, TGM1
25lysine458.6IVL, LELP1, KRT86, KRT5, KRT1, KRT2
26steroid458.4LOR, FLG, IVL, KRT16, KRT1, KRT10
27retinoid458.2FLG, IVL, KRT16, KRT5, KRT1, KRT2
28serine458.2LOR, FLG, IVL, KRT16, KRT5, KRT1
29proline457.5LOR, IVL, LELP1, KRT16, KRT5, KRT1
30retinoic acid45 248.5LOR, FLG, IVL, KRT16, KRT5, KRT1
31calcium45 50 11 249.4LOR, FLG, IVL, LELP1, TCHH, KRT5

GO Terms for genes affiliated with Epidermolytic Hyperkeratosis

Sources:
16Gene Ontology
See all sources

Cellular components related to Epidermolytic Hyperkeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:0015338.6TGM1, SPRR1B, IVL, LOR
2intermediate filamentGO:0058828.1FLG, KRT86, KRT16, KRT5, KRT2, KRT10
3keratin filamentGO:0450957.9KRTAP11-1, KRT86, KRT5, KRT1, KRT81, KRT2

Biological processes related to Epidermolytic Hyperkeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:0085448.9SPRR1B, KRT9, KRT2, KRT5, KRT16
2peptide cross-linkingGO:0181498.3LOR, IVL, SPRR1B, TGM1
3keratinocyte differentiationGO:0302168.0LOR, FLG, IVL, KRT10, SPRR1B, TGM1
4keratinizationGO:0314247.8TGM1, SPRR1B, KRT2, TCHH, IVL, LOR

Molecular functions related to Epidermolytic Hyperkeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306748.9SPRR1B, IVL, LOR
2structural constituent of cytoskeletonGO:0052008.6LOR, KRT16, KRT5, KRT2, KRT6A, KRT9
3structural molecule activityGO:0051987.3SPRR1B, LOR, FLG, IVL, KRT86, KRT1

Products for genes affiliated with Epidermolytic Hyperkeratosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epidermolytic Hyperkeratosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet