KWE
MCID: KRT013
MIFTS: 29

Keratolytic Winter Erythema (KWE)

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

Miscellaneous:
onset from infancy to early adulthood
triggered by exposure to water and moist conditions
exacerbated by cold weather (in some patients)
intrafamilial severity and course highly variable
amelioration in adulthood (in some patients)


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

OMIM : 57 Keratolytic winter erythema, also known as Oudtshoorn skin disease, manifests during childhood with recurrent episodes of palmoplantar erythema and centrifugal epidermal peeling. Lateral and dorsal aspects of the hands and feet can be involved. A less common finding is a slowly migratory, annular erythema that is seen mostly on the extremities. Between flares, the skin may appear unremarkable. Hyperhidrosis, associated with a pungent odor, is invariably present, and itching can occur. Peeling is preceded by the formation of dry blisters due to keratolysis, whereas formation of vesicles or bullae is rare. Cold weather, moisture, febrile diseases, and physical and mental stress can trigger exacerbations. In severely affected individuals, skin manifestations persist unremittingly. Penetrance of the disease is high, but expressivity is variable, even within the same family (summary by Ngcungcu et al., 2017). (148370)

MalaCards based summary : Keratolytic Winter Erythema, also known as kwe, is related to perrault syndrome 1 and skin disease. 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

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.

Wikipedia : 76 Keratolytic Winter erythema (also known as Oudtshoorn disease or Oudtshoorn skin) is a rare autosomal... 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 perrault syndrome 1 11.1
2 skin disease 10.3
3 maturity-onset diabetes of the young, type 11 9.9 FAM167A BLK

Symptoms & Phenotypes for Keratolytic Winter Erythema

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperhidrosis of palms and soles
cyclical centrifugal peeling of skin (palmoplantar surfaces)
erythematous base under peeling skin
superficial dry blisters
well-demarcated erythematous border (in some patients)
more
Skin Nails Hair Skin Electron Microscopy:
greatly expanded intercellular spaces
free-floating desmosomes
intracristal swelling with denser matrix in keratinocyte mitochondria
perinuclear electron-lucid vacuoles

Skin Nails Hair Skin Histology:
focal areas of mild spongiosis that spread centrifugally
compact parakeratotic layer under stratum corneum
proliferation of basal keratinocytes, forming new strata granulosa and corneum
split occurs above newly regenerated orthokeratotic stratum corneum


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:

# 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
Erythrokeratolysis hiemalis (keratolytic winter erythema): a case report from Denmark. ( 11683293 )
2001
8
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
9
Erythrokeratolysis hiemalis--keratolytic winter erythema or 'Oudtshoorn Skin'. A new epidermal genodermatosis with its histological features. ( 656323 )
1978
10
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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