MCID: EPD002
MIFTS: 49

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 52 11 25 70 12 13
Bullous Congenital Ichthyosiform Erythroderma 11 25 70 50
Bullous Ichthyosiform Erythroderma 11 25 70
Hyperkeratosis, Epidermolytic 25 39 68
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 25 70
Bullous Erythroderma Ichthyosiforme 25 27
 
Bcie 25 70
Ehk 25 70
Bie 25 70
Epidermolytic Palmoplantar Hyperkeratosis 11
Epidermolytic Hyperkeratosis Late-Onset 70
Epidermolytic Ichthyosis 25

Characteristics:

HPO:

64
epidermolytic hyperkeratosis:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 113800
Disease Ontology11 DOID:4603
ICD1030 Q80.3
MeSH39 D017488
NCIt45 C62569

Summaries for Epidermolytic Hyperkeratosis

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OMIM:52 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 palmoplantar hyperkeratosis, erythroderma and abnormal blistering of the skin. An important gene associated with Epidermolytic Hyperkeratosis is KRT10 (Keratin 10), and among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Neurofilaments. The drugs carbamide peroxide and eucerite have been mentioned in the context of this disorder. Affiliated tissues include skin.

Genetics Home Reference:25 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).

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 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 88)
idRelated DiseaseScoreTop Affiliating Genes
1palmoplantar keratoderma, epidermolytic30.9AQP5, KRT1, KRT16, KRT9, LOR
2ichthyosis, cyclic, with epidermolytic hyperkeratosis28.7AQP5, FLG, KRT1, KRT10, KRT16, KRT17
3krt1-related epidermolytic hyperkeratosis12.0
4krt10-related epidermolytic hyperkeratosis12.0
5ichthyosis, congenital, autosomal recessive 211.9
6epidermolytic ichthyosis11.4
7ichthyosis bullosa of siemens11.3
8epidermal nevus, somatic10.9
9palmoplantar keratoderma, bothnian type10.9
10ichthyosis hystrix gravior10.9
11wilson disease10.8
12menkes disease10.8
13bradyopsia10.5KRT1, KRT10
14palmoplantar keratoderma, nonepidermolytic10.4KRT1, KRT16
15white sponge nevus 110.4KRT1, KRT16
16complex lethal osteochondrodysplasia10.4KRT10, KRT16
17basal cell carcinoma 410.4AQP5, KRT1
18acute poisoning by drugs with membrane-stabilizing effect10.4FLG, KRT1
19metatypical basal cell carcinoma10.3KRT10, KRT17
20bullous keratopathy10.3KRT10, KRT16
21gastric squamous cell carcinoma10.3KRT10, KRT5
22epidermolysis bullosa simplex-mp10.3KRT10, KRT5
23pneumonia10.3KRT10, KRT5
24malignant epithelial mesothelioma10.2KRT10, KRT5
25otosclerosis10.2KRT16, KRT17
26telangiectasia, hereditary hemorrhagic, type 210.2KRT1, KRT10, KRT2
27bladder verrucous squamous cell carcinoma10.2KRT10, KRT5
28sclerosteosis 110.2KRT16, KRT17
29pachyonychia congenita 210.2KRT16, KRT17
30ichthyosis histrix, curth-macklin type10.2KRT1, KRT10, KRT16
31nevus comedonicus10.2
32nerve root neoplasm10.2KRT10, KRT5
33congenital ichthyosiform erythroderma10.2
34renal hypodysplasia10.1FLG, KRT1
35freemartinism10.1FLG, KRT1, KRT10
36epidermolysis bullosa10.1
37malignant cystic nephroma10.1KRT1, KRT10, KRT5
38hypertrophic or verrucous lupus erythematosus10.1FLG, KRT10, KRT16
39chondrodysplasia punctata, x-linked recessive10.1FLG, KRT10
40stromal keratitis10.1KRT10, KRT5
41subacute monocytic leukemia10.1FLG, KRT10, KRT16
42craniodiaphyseal dysplasia, autosomal dominant10.0KRT10, KRT16, KRT17
43keratosis10.0
44basal cell carcinoma10.0
45epidermolysis bullosa simplex10.0
46ebola hemorrhagic fever10.0KRT1, KRT10, KRT9
47lung sarcoma10.0FLG, KRT16
48ductal carcinoma in situ10.0KRT17, KRT5
49gilbert syndrome9.9KRT5, KRT9
50epidermolytic acanthoma9.9KRT10, KRT17, KRT5

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



Diseases related to epidermolytic hyperkeratosis

Symptoms & Phenotypes for Epidermolytic Hyperkeratosis

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Symptoms by clinical synopsis from OMIM:

113800

Clinical features from OMIM:

113800

Human phenotypes related to Epidermolytic Hyperkeratosis:

 64
id Description HPO Frequency HPO Source Accession
1 palmoplantar hyperkeratosis64 HP:0000972
2 erythroderma64 HP:0001019
3 abnormal blistering of the skin64 HP:0008066
4 scaling skin64 HP:0040189

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 DisordersUnknown statusNCT00074685

Search NIH Clinical Center for Epidermolytic Hyperkeratosis

Inferred drug relations via UMLS68/NDF-RT46:


Cochrane evidence based reviews: hyperkeratosis, epidermolytic

Genetic Tests for Epidermolytic Hyperkeratosis

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Genetic tests related to Epidermolytic Hyperkeratosis:

id Genetic test Affiliating Genes
1 Bullous Ichthyosiform Erythroderma27

Anatomical Context for Epidermolytic Hyperkeratosis

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MalaCards organs/tissues related to Epidermolytic Hyperkeratosis:

36
Skin

Publications for Epidermolytic Hyperkeratosis

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Articles related to Epidermolytic Hyperkeratosis:

(show top 50)    (show all 148)
idTitleAuthorsYear
1
Incidental focal epidermolytic hyperkeratosis in rosacea. (27401945)
2016
2
Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis. (27520397)
2016
3
Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). (26969483)
2016
4
S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis. (26373619)
2015
5
Linear Nevoid Epidermolytic Hyperkeratosis Localized to the Sole. (26790514)
2015
6
Epidermolytic Hyperkeratosis--case report. (26734873)
2015
7
Systematized linear epidermolytic hyperkeratosis. (24456951)
2014
8
Epidermolytic hyperkeratosis of the vulva associated with basal cell carcinoma in a patient with vaginal condyloma acuminatum and vaginal intraepithelial neoplasia harboring HPV, type 42. (24758505)
2014
9
Epidermolytic Hyperkeratosis: One More Pattern of Grover Disease. (25436919)
2014
10
Grover Disease With Features of Epidermolytic Hyperkeratosis. (23435360)
2013
11
Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1. (23623204)
2013
12
Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment. (22938157)
2013
13
Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis. (21463361)
2012
14
A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1). (22250628)
2012
15
Incidental cutaneous reaction patterns: epidermolytic hyperkeratosis, acantholytic dyskeratosis, and hailey-hailey-like acantholysis: a potential marker of premalignant skin change. (21773039)
2011
16
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. (21772595)
2011
17
Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids. (22068776)
2011
18
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation. (21496707)
2011
19
Epidermolytic hyperkeratosis and congenital platelike osteoma cutis in a child. (21838083)
2011
20
Localised epidermolytic hyperkeratosis of the vulva: a case of mistaken identity. (20632830)
2010
21
Two cases of linear epidermolytic hyperkeratosis: therapeutic challenge with acitretin. (20388608)
2010
22
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. (19474805)
2009
23
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. (19443303)
2009
24
Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis. (19200214)
2009
25
Acitretin + EHK = PG: Toe web pyogenic granuloma in a man with total body epidermolytic hyperkeratosis on acitretin--report of a unique occurrence. (20102018)
2009
26
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. (18571597)
2008
27
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. (18261139)
2008
28
Pityriasis rubra pilaris with epidermolytic hyperkeratosis. (19112765)
2008
29
A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. (18360110)
2008
30
Multiple nonmelanoma skin cancers in a patient with epidermolytic hyperkeratosis on long-standing retinoid therapy. (18505142)
2008
31
Epidermolytic hyperkeratosis with a rare digital contracture. (17684790)
2007
32
Epidermolytic hyperkeratosis type NPS-3: a case report. (17433175)
2007
33
Nevus comedonicus with epidermolytic hyperkeratosis. (17337416)
2007
34
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. (17255957)
2007
35
Epidermolytic hyperkeratosis within infundibular cysts. (17381810)
2007
36
R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis. (17683385)
2007
37
Epidermolytic hyperkeratosis. (16962021)
2006
38
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. (17101470)
2006
39
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. (16505000)
2006
40
Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. (16990804)
2006
41
A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene. (16487115)
2006
42
A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis. (16677804)
2006
43
A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. (16528356)
2006
44
Epidermolytic hyperkeratosis with rickets. (16707822)
2006
45
A novel threonine to proline mutation in the helix termination motif of keratin 1 in epidermolytic hyperkeratosis with severe palmoplantar hyperkeratosis and contractures of the digits. (15888189)
2005
46
Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event. (15663649)
2005
47
Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1. (15663507)
2005
48
Epidermolytic hyperkeratosis as an incidental finding in drug-induced acne. (16334875)
2005
49
Complex total hip replacement in a patient with epidermolytic hyperkeratosis. A case report. (16322630)
2005
50
Localized epidermolytic hyperkeratosis of the female genitalia: a case report and review of an underappreciated disorder of women. (16614655)
2005

Variations for Epidermolytic Hyperkeratosis

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

70 (show all 31)
id Symbol AA change Variation ID SNP ID
1KRT10p.Asn154HisVAR_003826rs57784225
2KRT10p.Arg156HisVAR_003827rs58075662
3KRT10p.Arg156CysVAR_003828rs58852768
4KRT10p.Arg156ProVAR_003829rs58075662
5KRT10p.Arg156SerVAR_003830rs58852768
6KRT10p.Tyr160AspVAR_003831rs58414354
7KRT10p.Leu161SerVAR_003832rs60118264
8KRT10p.Leu442GlnVAR_003833rs58026994
9KRT10p.Met150ArgVAR_010506rs58901407
10KRT10p.Met150ThrVAR_010507rs58901407
11KRT10p.Tyr160AsnVAR_010508
12KRT10p.Tyr160SerVAR_010509rs58735429
13KRT10p.Lys439GluVAR_010510rs61434181
14KRT10p.Tyr449CysVAR_071985rs267607383
15KRT1p.Val155GlyVAR_003853rs57959072
16KRT1p.Leu161ProVAR_003854rs57695159
17KRT1p.Ser186ProVAR_003855rs60022878
18KRT1p.Asn188SerVAR_003856rs58928370
19KRT1p.Ser193ProVAR_003857rs60937700
20KRT1p.Glu490GlnVAR_003861rs60279707
21KRT1p.Val155AspVAR_017820rs57959072
22KRT1p.Asn188LysVAR_017821rs59429455
23KRT1p.Asn188ThrVAR_017822rs58928370
24KRT1p.Leu214ProVAR_017823rs61549035
25KRT1p.Asp340ValVAR_017824rs58062863
26KRT1p.Ile479ThrVAR_017826rs57837128
27KRT1p.Tyr482CysVAR_017827rs58420087
28KRT1p.Leu486ProVAR_017828rs56914602
29KRT1p.Glu478GlnVAR_071986rs59089201
30KRT1p.Leu485ProVAR_071987rs267607430
31KRT1p.Glu490LysVAR_071988rs60279707

Clinvar genetic disease variations for Epidermolytic Hyperkeratosis:

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1KRT10KRT10, ARG10HISSNVPathogenicChr na, -1: -1
2KRT10NM_000421.3(KRT10): c.482T> C (p.Leu161Ser)SNVPathogenicrs60118264GRCh37Chr 17, 38978356: 38978356
3KRT10KRT10, ARG10LEUundetermined variantPathogenicChr na, -1: -1
4KRT10NM_000421.3(KRT10): c.460A> C (p.Asn154His)SNVPathogenicrs57784225GRCh37Chr 17, 38978378: 38978378
5KRT10NM_000421.3(KRT10): c.478T> G (p.Tyr160Asp)SNVPathogenicrs58414354GRCh37Chr 17, 38978360: 38978360
6KRT10NM_000421.3(KRT10): c.467G> A (p.Arg156His)SNVPathogenicrs58075662GRCh37Chr 17, 38978371: 38978371
7KRT10KRT10, ARG10CYSundetermined variantPathogenicChr na, -1: -1
8KRT10NM_000421.3(KRT10): c.1325T> A (p.Leu442Gln)SNVPathogenicrs58026994GRCh37Chr 17, 38975817: 38975817
9KRT10NM_000421.3(KRT10): c.466C> T (p.Arg156Cys)SNVPathogenicrs58852768GRCh37Chr 17, 38978372: 38978372
10KRT10NM_000421.3(KRT10): c.449T> G (p.Met150Arg)SNVPathogenicrs58901407GRCh37Chr 17, 38978389: 38978389
11KRT10NM_000421.3(KRT10): c.1315A> G (p.Lys439Glu)SNVPathogenicrs61434181GRCh37Chr 17, 38975827: 38975827
12KRT10NM_000421.3(KRT10): c.449T> C (p.Met150Thr)SNVPathogenicrs58901407GRCh37Chr 17, 38978389: 38978389
13KRT1NM_006121.3(KRT1): c.931G> C (p.Glu311Gln)SNVPathogenicrs137853224GRCh37Chr 12, 53071466: 53071466
14KRT1NM_006121.3(KRT1): c.482T> C (p.Leu161Pro)SNVPathogenicrs57695159GRCh37Chr 12, 53073651: 53073651
15KRT1NM_006121.3(KRT1): c.1445A> G (p.Tyr482Cys)SNVPathogenicrs58420087GRCh37Chr 12, 53070089: 53070089
16KRT1NM_006121.3(KRT1): c.464T> A (p.Val155Asp)SNVPathogenicrs57959072GRCh37Chr 12, 53073669: 53073669
17KRT1NM_006121.3(KRT1): c.564C> A (p.Asn188Lys)SNVPathogenicrs59429455GRCh37Chr 12, 53073569: 53073569
18KRT1NM_006121.3(KRT1): c.1424T> C (p.Leu475Pro)SNVPathogenicrs137853225GRCh37Chr 12, 53070110: 53070110
19KRT10NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter)SNVPathogenicrs60035576GRCh37Chr 17, 38975842: 38975842
20KRT10NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter)SNVPathogenicrs387906640GRCh37Chr 17, 38975861: 38975861
21KRT10KRT10, 1-BP INS, 1325CinsertionPathogenicChr na, -1: -1
22KRT10KRT10, IVS5DS, G-A, +5SNVPathogenicChr na, -1: -1

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
18.9KRT10, KRT17, KRT5
2
Show member pathways
8.2KRT1, KRT16, KRT17, KRT2, KRT5

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
1keratin filamentGO:00450959.4KRT1, KRT2, KRT5
2intermediate filamentGO:00058827.8FLG, KRT10, KRT16, KRT17, KRT2, KRT5
3extracellular exosomeGO:00700627.4AQP5, KRT1, KRT10, KRT16, KRT17, KRT2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1establishment of skin barrierGO:00614369.9FLG, KRT1, KRT16
2keratinocyte migrationGO:00515469.8KRT16, KRT2
3intermediate filament organizationGO:00451099.3KRT17, KRT2, KRT9
4cytoskeleton organizationGO:00070109.3KRT16, KRT2, KRT5, LOR
5keratinocyte differentiationGO:00302168.9FLG, KRT10, KRT16, LOR
6keratinizationGO:00314248.8KRT16, KRT17, KRT2, LOR
7epidermis developmentGO:00085448.5KRT16, KRT17, KRT2, KRT5, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of epidermisGO:003028010.2KRT10, LOR
2structural molecule activityGO:00051988.8FLG, KRT1, KRT2, LOR
3structural constituent of cytoskeletonGO:00052007.9KRT16, KRT17, KRT2, KRT5, KRT9, LOR

Sources for Epidermolytic Hyperkeratosis

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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