Keratolytic winter erythema Q82.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Erythrokeratolysis hiemalis; Keratolytic winter erythema; MIM 148370; Oudtshoorn Disease

Definition
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Autosomal dominant inherited recurrent erythematous palmoplantar keratosis found in Dutch-born South Africans, but also in a Norwegian family (Ngcungcu T et al. 2017).

Etiopathogenesis
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Tandem duplications" are detectable in a non-coding genomic region (8p22-p23), which contains an active enhancer element for CTSB. CBS is a gene encoding catepsin B. Catepsin B is a cysteine protease that plays an important role in keratinocyte homeostasis. Immunohistologically, an increased expression of CTSB, the gene coding for cathepsin B, was detected in lesional skin of the CFD; furthermore, an increased reactivity for cathepsin B in the stratum granulosum was shown immunohistologically.

Clinical features
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Mild scaling palmoplantar keratosis (skin peeling) with underlying erythema and traumatic blister formation, which worsens especially in the cold season. The ichthyotic changes can also spread to the forearms and lower legs in the form of figured erythematous scaly ruffs.

Literature
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  1. Danielsen AG et al (2001) Erythrokeratolysis hiemalis (keratolytic winter erythema): a case report from Denmark. J Eur Acad Dermatol Venereol 15:255-256.
  2. Findlay GH et al (1978) Erythrokeratolysis hiemalis--keratolytic winter erythema or 'Oudtshoorn Skin'.
    Anew epidermal genodermatosis with its histological features. Br J Dermatol 98:491-495.
  3. Ngcungcu T et al (2017) Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. At J Hum Genet 100:737-750.

Incoming links (2)

Cathepsin; Cathepsin b;

Outgoing links (1)

Cathepsin b;

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Last updated on: 29.10.2020