EHK
MCID: EPD002
MIFTS: 50

Epidermolytic Hyperkeratosis (EHK) 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 squamous cell carcinoma and ichthyosis, cyclic, with epidermolytic hyperkeratosis, and has symptoms including scaly skin, scaly skin and palmoplantar hyperkeratosis. 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 eucerite and eucerin 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 101)
idRelated DiseaseScoreTop Affiliating Genes
1squamous cell carcinoma30.0KRT1, KRT10, KRT9
2ichthyosis, cyclic, with epidermolytic hyperkeratosis12.1
3krt1-related epidermolytic hyperkeratosis12.0
4krt10-related epidermolytic hyperkeratosis12.0
5ichthyosis, congenital, autosomal recessive 211.9
6palmoplantar keratoderma, epidermolytic11.7
7epidermolytic ichthyosis11.4
8ichthyosis bullosa of siemens11.3
9epidermal nevus, somatic10.9
10palmoplantar keratoderma, bothnian type10.9
11ichthyosis hystrix gravior10.9
12wilson disease10.8
13menkes disease10.8
14ichthyosis10.4
15bradyopsia10.3KRT1, KRT10
16palmoplantar keratoderma, nonepidermolytic10.3KRT1, KRT10
17subglottis verrucous carcinoma10.2KRT1, KRT10
18insulinoma10.2FLG, KRT10
19pneumonia caused by pseudomonas aeruginosa infection10.2FLG, KRT1
20dowling-degos disease 110.2KRT10, KRT5
21nevus comedonicus10.2
22neonatal marfan syndrome10.2KRT2, KRT5
23basaloid squamous cell carcinoma10.2KRT10, KRT5
24chondrodysplasia punctata, x-linked recessive10.2FLG, KRT10
25anal squamous cell carcinoma10.2KRT10, KRT5
26persian gulf syndrome10.2KRT10, KRT5
27preauricular tag, isolated, autosomal dominant, 110.2FLG, KRT10
28gaucher disease, type i10.2FLG, LOR
29congenital ichthyosiform erythroderma10.2
30thymus mucoepidermoid carcinoma10.1FLG, KRT1, KRT10
31cole-carpenter syndrome 110.1FLG, KRT1, KRT10
32ovarian insufficiency due to fsh resistance10.1KRT1, KRT5
33erdheim-chester disease10.1KRT1, KRT10, KRT9
34bronchiolitis obliterans with obstructive pulmonary disease10.1KRT10, KRT16
35ciliary dyskinesia, primary, 1, with or without situs inversus10.1KRT1, KRT10, KRT9
36mongolian spot10.1KRT10, KRT5
37epidermolysis bullosa10.1
38secondary corneal edema10.1KRT10, KRT16
39cerebellar disease10.1FLG, KRT16
40progressive myoclonus epilepsy10.1FLG, LOR
41anal margin basal cell carcinoma10.1KRT10, KRT17
42dermatitis, atopic 210.0FLG, KRT1, LOR
43nodular cutaneous amyloidosis10.0KRT10, KRT5
44episodic angioedema with eosinophilia10.0FLG, KRT1, KRT10, KRT2
45skin atrophy10.0KRT1, KRT10, KRT16
46familial acute necrotizing encephalopathy10.0FLG, KRT10, KRT16
47keratosis10.0
48basal cell carcinoma10.0
49epidermolysis bullosa simplex10.0
50vascular dementia10.0FLG, KRT10, KRT16

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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Drugs for Epidermolytic Hyperkeratosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1ImmunoglobulinsPhase 26394
2Antibodies, MonoclonalPhase 24039
3AntibodiesPhase 26394

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Efficacy and Safety of Secukinumab in Patients With IchthyosesRecruitingNCT03041038Phase 2
2National 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
Linear Nevoid Epidermolytic Hyperkeratosis Localized to the Sole. (26790514)
2015
5
S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis. (26373619)
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
Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment. (22938157)
2013
12
Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1. (23623204)
2013
13
A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1). (22250628)
2012
14
Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis. (21463361)
2012
15
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation. (21496707)
2011
16
Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids. (22068776)
2011
17
Incidental cutaneous reaction patterns: epidermolytic hyperkeratosis, acantholytic dyskeratosis, and hailey-hailey-like acantholysis: a potential marker of premalignant skin change. (21773039)
2011
18
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. (21772595)
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
Acitretin + EHK = PG: Toe web pyogenic granuloma in a man with total body epidermolytic hyperkeratosis on acitretin--report of a unique occurrence. (20102018)
2009
24
Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis. (19200214)
2009
25
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. (19443303)
2009
26
A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. (18360110)
2008
27
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. (18571597)
2008
28
Pityriasis rubra pilaris with epidermolytic hyperkeratosis. (19112765)
2008
29
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. (18261139)
2008
30
Multiple nonmelanoma skin cancers in a patient with epidermolytic hyperkeratosis on long-standing retinoid therapy. (18505142)
2008
31
Nevus comedonicus with epidermolytic hyperkeratosis. (17337416)
2007
32
Epidermolytic hyperkeratosis type NPS-3: a case report. (17433175)
2007
33
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. (17255957)
2007
34
Epidermolytic hyperkeratosis within infundibular cysts. (17381810)
2007
35
R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis. (17683385)
2007
36
Epidermolytic hyperkeratosis with a rare digital contracture. (17684790)
2007
37
A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis. (16677804)
2006
38
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. (16505000)
2006
39
A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. (16528356)
2006
40
Epidermolytic hyperkeratosis with rickets. (16707822)
2006
41
Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. (16990804)
2006
42
A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene. (16487115)
2006
43
Epidermolytic hyperkeratosis. (16962021)
2006
44
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. (17101470)
2006
45
Complex total hip replacement in a patient with epidermolytic hyperkeratosis. A case report. (16322630)
2005
46
Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event. (15663649)
2005
47
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
48
Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1. (15663507)
2005
49
Localized epidermolytic hyperkeratosis of the female genitalia: a case report and review of an underappreciated disorder of women. (16614655)
2005
50
Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. (16029326)
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, ARG10HISSNVPathogenic
2KRT10NM_ 000421.3(KRT10): c.482T> C (p.Leu161Ser)SNVPathogenicrs60118264GRCh37Chr 17, 38978356: 38978356
3KRT10KRT10, ARG10LEUundetermined variantPathogenic
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 variantPathogenic
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, 1325CinsertionPathogenic
22KRT10KRT10, IVS5DS, G-A, +5SNVPathogenic

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
19.0KRT10, KRT17, KRT5
2
Show member pathways
7.9KRT1, KRT16, KRT17, KRT2, KRT5
3
Show member pathways
5.8FLG, KRT1, KRT10, KRT16, KRT17, KRT2
4
Show member pathways
5.8FLG, KRT1, KRT10, KRT16, KRT17, KRT2

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
2cornified envelopeGO:00015338.9FLG, KRT1, KRT10, KRT2, LOR, TCHH
3extracellular exosomeGO:00700627.8KRT1, KRT10, KRT16, KRT17, KRT2, KRT5
4intermediate filamentGO:00058827.3FLG, KRT1, KRT10, KRT16, KRT17, KRT2
5cytosolGO:00058296.5FLG, KRT1, KRT10, KRT16, KRT17, KRT2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1keratinocyte migrationGO:00515469.9KRT16, KRT2
2establishment of skin barrierGO:00614369.8FLG, KRT1, KRT16
3cytoskeleton organizationGO:00070109.6KRT16, KRT5, LOR
4keratinocyte differentiationGO:00302169.2FLG, KRT10, KRT16, LOR
5intermediate filament organizationGO:00451098.9KRT17, KRT2, KRT9, TCHH
6peptide cross-linkingGO:00181498.8FLG, KRT1, KRT10, KRT2, LOR
7skin epidermis developmentGO:00987738.6FLG, KRT1, KRT10, KRT2, LOR
8epidermis developmentGO:00085448.4KRT16, KRT17, KRT2, KRT5, KRT9
9keratinizationGO:00314246.7KRT1, KRT10, KRT16, KRT17, KRT2, KRT5
10cornificationGO:00702686.5FLG, KRT1, KRT10, KRT16, KRT17, KRT2

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

idNameGO IDScoreTop Affiliating Genes
1transition metal ion bindingGO:00469149.6FLG, TCHH
2structural constituent of epidermisGO:00302809.2FLG, KRT1, KRT10, KRT2, LOR
3structural constituent of cytoskeletonGO:00052007.9KRT16, KRT17, KRT2, KRT5, KRT9, LOR
4structural molecule activityGO:00051987.8FLG, KRT1, KRT16, KRT17, KRT2, 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