Details of Disease | DrugMAP

General Information of Disease (ID: DIS2TO10)

Disease Name	Keratolytic winter erythema
Synonyms	Oudtshoorn skin disease; Oudtshoorn skin; Erythrokeratolysis hiemalis ichthyosis; KWE; keratolytic WINTER erythema; Erythrokeratolysis hiemalis; keratolytic winter erythema; Oudtshoorn disease
Definition	Keratolytic 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.
Disease Hierarchy	DISIDQ39: Epidermal disease DIS2TO10: Keratolytic winter erythema
Disease Identifiers	MONDO ID MONDO_0007854 MESH ID C536155 UMLS CUI C0406756 OMIM ID 148370 MedGen ID 98359 Orphanet ID 50943 SNOMED CT ID 239064000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FDFT1	TTFQEO5	Limited	Biomarker	[1]
CTSB	TTF2LRI	Strong	Autosomal dominant	[2]
CTSB	TTF2LRI	Strong	ChromosomalRearrangement	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CSTB	OT3U0JF8	Moderate	Autosomal dominant	[2]
CTSB	OTP9G5QB	Strong	Autosomal dominant	[2]
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References

1	Exclusion of CTSB and FDFT1 as positional and functional candidate genes for keratolytic winter erythema (KWE).J Dermatol Sci. 2012 Jan;65(1):58-62. doi: 10.1016/j.jdermsci.2011.08.008. Epub 2011 Sep 8.
2	Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. Am J Hum Genet. 2017 May 4;100(5):737-750. doi: 10.1016/j.ajhg.2017.03.012. Epub 2017 Apr 27.