KWE
MCID: KRT013
MIFTS: 39

Keratolytic Winter Erythema (KWE)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratolytic Winter Erythema

MalaCards integrated aliases for Keratolytic Winter Erythema:

Name: Keratolytic Winter Erythema 58 77 54 60 76 13 74
Kwe 58 54 76
Erythrokeratolysis Hiemalis 60 76
Oudtshoorn Skin Disease 58 76
Erythrokeratolysis Hiemalis Ichthyosis 54
Oudtshoorn Disease 60
Oudtshoorn Skin 54
Erythema 45

Characteristics:

Orphanet epidemiological data:

60
keratolytic winter erythema
Inheritance: Autosomal dominant;

OMIM:

58
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:

33
keratolytic winter erythema:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 148370
MeSH 45 D004890
ICD10 34 L51.9 L54 L54.8
MESH via Orphanet 46 C536155
UMLS via Orphanet 75 C0406756
Orphanet 60 ORPHA50943
MedGen 43 C0406756
UMLS 74 C0406756

Summaries for Keratolytic Winter Erythema

UniProtKB/Swiss-Prot : 76 Keratolytic winter erythema: An autosomal dominant genodermatosis characterized by recurrent episodes of palmoplantar erythema and epidermal peeling presenting seasonal variation. KWE manifests during childhood. 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. A less common finding is a slowly migratory, annular erythema that is seen mostly on the extremities. Between flares, the skin can appear unremarkable. Itching can occur, and hyperhidrosis, associated with a pungent odor, is invariably present. Formation of vesicles is rare, whereas keratolysis that causes the formation of dry blisters is regularly seen. 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.

MalaCards based summary : Keratolytic Winter Erythema, also known as kwe, is related to erythema multiforme and erythema elevatum diutinum. An important gene associated with Keratolytic Winter Erythema is FECH (Ferrochelatase). Affiliated tissues include skin, t cells and myeloid, and related phenotypes are erythema and hyperhidrosis

NIH Rare Diseases : 54 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.

OMIM : 58 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)

Wikipedia : 77 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:

(show top 50) (show all 657)
# Related Disease Score Top Affiliating Genes
1 erythema multiforme 12.8
2 erythema elevatum diutinum 12.6
3 erythema infectiosum 12.6
4 epidermolysis bullosa simplex with migratory circinate erythema 12.5
5 zinc-responsive necrolytic acral erythema 12.5
6 erythema palmare hereditarium 12.4
7 erythema nodosum, idiopathic 12.4
8 erythema multiforme major 12.3
9 annular erythema 12.3
10 erythema nodosum, familial 12.3
11 erythema of acral regions 12.0
12 erythrokeratodermia variabilis et progressiva 1 11.8
13 nakajo syndrome 11.6
14 bloom syndrome 11.6
15 proteasome-associated autoinflammatory syndrome 1 11.5
16 kawasaki disease 11.5
17 geographic tongue 11.5
18 familial cold autoinflammatory syndrome 3 11.4
19 parvovirus antenatal infection 11.4
20 lyme disease 11.4
21 glucagonoma 11.4
22 epidermolytic hyperkeratosis 11.4
23 pityriasis rubra pilaris 11.3
24 rheumatic fever 11.3
25 crohn's disease 11.2
26 vibratory urticaria 11.2
27 hereditary angioedema 11.2
28 sarcoidosis 1 11.2
29 pulmonary sarcoidosis 11.2
30 haverhill fever 11.2
31 benign chronic pemphigus 11.2
32 protoporphyria, erythropoietic, 1 11.2
33 orbital cellulitis 11.2
34 hidradenitis 11.2
35 mammary paget's disease 11.2
36 ritter's disease 11.2
37 frontal fibrosing alopecia 11.2
38 severe cutaneous adverse reaction 11.2
39 cone-rod dystrophy and hearing loss 2 11.1
40 peeling skin syndrome 1 11.1
41 ichthyosis, congenital, autosomal recessive 8 11.1
42 peeling skin syndrome 5 11.1
43 nevus flammeus of nape of neck 11.0
44 keratoderma palmoplantaris transgrediens 11.0
45 mastocytosis, cutaneous 11.0
46 ichthyosis, congenital, autosomal recessive 2 11.0
47 ichthyosis, congenital, autosomal recessive 1 11.0
48 hypotrichosis 8 11.0
49 ichthyosis, congenital, autosomal recessive 4a 11.0
50 ichthyosis, congenital, autosomal recessive 11 11.0

Graphical network of the top 20 diseases related to Keratolytic Winter Erythema:



Diseases related to Keratolytic Winter Erythema

Symptoms & Phenotypes for Keratolytic Winter Erythema

Human phenotypes related to Keratolytic Winter Erythema:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
2 hyperhidrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000975
3 pustule 60 33 occasional (7.5%) Occasional (29-5%) HP:0200039
4 palmoplantar hyperhidrosis 33 HP:0007410

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Keratolytic Winter Erythema

Search Clinical Trials , NIH Clinical Center for Keratolytic Winter Erythema

Cochrane evidence based reviews: erythema

Genetic Tests for Keratolytic Winter Erythema

Anatomical Context for Keratolytic Winter Erythema

MalaCards organs/tissues related to Keratolytic Winter Erythema:

42
Skin, T Cells, Myeloid, Breast, Prostate, B Cells, Monocytes

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

ClinVar genetic disease variations for Keratolytic Winter Erythema:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FECH NM_001012515.3(FECH): c.68-23C> T single nucleotide variant Conflicting interpretations of pathogenicity rs2269219 GRCh37 Chromosome 18, 55247454: 55247454
2 FECH NM_001012515.3(FECH): c.68-23C> T single nucleotide variant Conflicting interpretations of pathogenicity rs2269219 GRCh38 Chromosome 18, 57580222: 57580222
3 FECH NM_000140.3(FECH): c.315-48T> C single nucleotide variant Pathogenic rs2272783 GRCh38 Chromosome 18, 57571588: 57571588
4 FECH NM_000140.3(FECH): c.315-48T> C single nucleotide variant Pathogenic rs2272783 GRCh37 Chromosome 18, 55238820: 55238820

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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