MCID: KRT013
MIFTS: 28

Keratolytic Winter Erythema

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Keratolytic Winter Erythema

MalaCards integrated aliases for Keratolytic Winter Erythema:

Name: Keratolytic Winter Erythema 57 76 53 59 13 73
Kwe 57 53
Erythrokeratolysis Hiemalis Ichthyosis 53
Erythrokeratolysis Hiemalis 59
Oudtshoorn Skin Disease 57
Oudtshoorn Disease 59
Oudtshoorn Skin 53

Characteristics:

Orphanet epidemiological data:

59
keratolytic winter erythema
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
keratolytic winter erythema:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 148370
Orphanet 59 ORPHA50943
MESH via Orphanet 45 C536155
UMLS via Orphanet 74 C0406756
MedGen 42 C0406756
UMLS 73 C0406756

Summaries for Keratolytic Winter Erythema

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 50943Disease definitionKeratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.Visit the Orphanet disease page for more resources.

MalaCards based summary : Keratolytic Winter Erythema, also known as kwe, is related to skin disease and maturity-onset diabetes of the young, type 11. An important gene associated with Keratolytic Winter Erythema is KWE (Keratolytic Winter Erythema (Oudtshoorn Skin Disease)). Affiliated tissues include skin, and related phenotypes are hyperhidrosis and erythema

OMIM : 57 Keratolytic winter erythema, also known as Oudtshoorn skin disease, is characterized by a cyclical disruption of normal epidermal keratinization primarily affecting the palmoplantar skin with peeling of the palms and soles. The condition is worse in the winter (summary by Hull et al., 2013). (148370)

Wikipedia : 76 Keratolytic Winter erythema ( Oudtshoorn disease and Oudtshoorn skin, }is a rare autosomal dominant skin... more...

Related Diseases for Keratolytic Winter Erythema

Diseases related to Keratolytic Winter Erythema via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 skin disease 10.1
2 maturity-onset diabetes of the young, type 11 9.2 BLK FAM167A

Symptoms & Phenotypes for Keratolytic Winter Erythema

Symptoms via clinical synopsis from OMIM:

57
Skin:
intermittent recurrent centrifugal peeling with redness, esp. palms and soles

Misc:
onset from infancy to early adulthood
amelioration after age 30
onset and recurrence with cold weather


Clinical features from OMIM:

148370

Human phenotypes related to Keratolytic Winter Erythema:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000975
2 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
3 pustule 59 32 occasional (7.5%) Occasional (29-5%) HP:0200039

Drugs & Therapeutics for Keratolytic Winter Erythema

Search Clinical Trials , NIH Clinical Center for Keratolytic Winter Erythema

Genetic Tests for Keratolytic Winter Erythema

Anatomical Context for Keratolytic Winter Erythema

MalaCards organs/tissues related to Keratolytic Winter Erythema:

41
Skin

Publications for Keratolytic Winter Erythema

Articles related to Keratolytic Winter Erythema:

(show all 11)
# Title Authors Year
1
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. ( 28457472 )
2017
2
The elusive gene for keratolytic winter erythema. ( 24300638 )
2013
3
Exclusion of CTSB and FDFT1 as positional and functional candidate genes for keratolytic winter erythema (KWE). ( 21945151 )
2012
4
Photodynamic therapy for the treatment of keratolytic winter erythema. ( 20738319 )
2011
5
Keratolytic winter erythema with facial involvement: a novel presentation. ( 19018790 )
2009
6
Genetic heterogeneity in keratolytic winter erythema (Oudtshoorn skin disease). ( 16924068 )
2006
7
Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. ( 11896452 )
2002
8
Erythrokeratolysis hiemalis (keratolytic winter erythema): a case report from Denmark. ( 11683293 )
2001
9
Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakers. ( 9311742 )
1997
10
Erythrokeratolysis hiemalis--keratolytic winter erythema or 'Oudtshoorn Skin'. A new epidermal genodermatosis with its histological features. ( 656323 )
1978
11
Keratolytic winter erythema or 'oudtshoorn skin': a newly recognized inherited dermatosis prevalent in South Africa. ( 607500 )
1977

Variations for Keratolytic Winter Erythema

Expression for Keratolytic Winter Erythema

Search GEO for disease gene expression data for Keratolytic Winter Erythema.

Pathways for Keratolytic Winter Erythema

GO Terms for Keratolytic Winter Erythema

Sources for Keratolytic Winter Erythema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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