KEGG DISEASE: Keratolytic winter erythema

KEGG

DISEASE: Keratolytic winter erythema

Entry

H02920                      Disease

Name

Keratolytic winter erythema

Description

Keratolytic winter erythema (KWE) is a rare autosomal dominant skin disorder characterized by recurrent episodes of palmoplantar erythema and epidermal peeling. It has been reported that KWE is caused by tandem duplications in a non-coding genomic region containing an active enhancer element for CTSB. It encodes cathepsin B, a cysteine protease involved in keratinocyte homeostasis.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H02920  Keratolytic winter erythema

Gene

CTSB [HSA:1508] [KO:K01363]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Ngcungcu T, Oti M, Sitek JC, Haukanes BI, Linghu B, Bruccoleri R, Stokowy T, Oakeley EJ, Yang F, Zhu J, Sultan M, Schalkwijk J, van Vlijmen-Willems IMJJ, von der Lippe C, Brunner HG, Ersland KM, Grayson W, Buechmann-Moller S, Sundnes O, Nirmala N, Morgan TM, van Bokhoven H, Steen VM, Hull PR, Szustakowski J, Staedtler F, Zhou H, Fiskerstrand T, Ramsay M

Title

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.

Journal

Am J Hum Genet 100:737-750 (2017)
DOI:10.1016/j.ajhg.2017.03.012

Reference

Authors

Ramsay M, Ngcungcu T, Grayson W

Title

Keratolytic Winter Erythema: An Update.

Journal

Dermatopathology (Basel) 6:126-132 (2019)
DOI:10.1159/000496338

LinkDB

» Japanese version

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