Photodynamic therapy for the treatment of keratolytic winter erythema

Amin, AA; DeGiovanni, Claudia; Farrant, Paul; Hull, Peter; Woollons, A.

doi:10.1111/j.1365-2230.2010.03927.x

Cited by 7 publications

(3 citation statements)

References 5 publications

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“…Keratolytic winter erythema (KWE) is a rare autosomal dominant condition mostly occurring among South African Afrikaans‐speaking Caucasoid populations of the Eastern Cape and Oudtshoorn districts. It has also been described in British and American families with South African or Norwegian ancestors as well as in Germany and Denmark . The KWE critical region has been mapped to chromosome 8p23.1‐p22 .…”

Section: Isolated Palmoplantar Keratodermasmentioning

confidence: 99%

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

Guerra

Castori

Didona

et al. 2018

Acad Dermatol Venereol

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The term palmoplantar keratoderma (PPK) indicates any form of persistent thickening of the epidermis of palms and soles and includes genetic as well as acquired conditions. We review the nosology of hereditary PPKs that comprise an increasing number of entities with different prognoses, and a multitude of associated cutaneous and extracutaneous features. On the basis of the phenotypic consequences of the underlying genetic defect, hereditary PPKs may be divided into the following: (i) non-syndromic, isolated PPKs, which are characterized by a unique or predominant palmoplantar involvement; (ii) non-syndromic PPKs with additional distinctive cutaneous and adnexal manifestations, here named complex PPKs; (iii) syndromic PPKs, in which PPK is associated with specific extracutaneous manifestations. To date, the diagnosis of the different hereditary PPKs is based mainly on clinical history and features combined with histopathological findings. In recent years, the exponentially increasing use of next-generation sequencing technologies has led to the identification of several novel disease genes, and thus substantially contributed to elucidate the molecular basis of such a heterogeneous group of disorders. Here, we focus on hereditary non-syndromic isolated and complex PPKs. Syndromic PPKs are reviewed in the second part of this 2-part article, where other well-defined genetic diseases, which may present PPK among their phenotypic manifestations, are also listed and diagnostic and therapeutic approaches for PPKs are summarized.

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Section: Isolated Palmoplantar Keratodermasmentioning

confidence: 99%

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

Guerra

Castori

Didona

et al. 2018

Acad Dermatol Venereol

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“…3 KWE has also been described in Germany, 4 Denmark, 5 the US (in a family of Norwegian descent), 6 and the UK (in a family linked to the South African pedigrees). 7 Genome-wide linkage analysis in South African families and one German family mapped the disease locus to chromosomal region 8p23.1-22 from marker D8S1759 to D8S552. 4,8 The KWE critical region ($1.2 Mb) contains 15 known protein-coding genes and is flanked by two olfactory repeat regions that are prone to non-allelic homologous recombination.…”

Section: Introductionmentioning

confidence: 99%

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

Ngcungcu

Oti

Sitek

et al. 2017

The American Journal of Human Genetics

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Keratolytic winter erythema (KWE) is a rare autosomal-dominant skin disorder characterized by recurrent episodes of palmoplantar erythema and epidermal peeling. KWE was previously mapped to 8p23.1-p22 (KWE critical region) in South African families. Using targeted resequencing of the KWE critical region in five South African families and SNP array and whole-genome sequencing in two Norwegian families, we identified two overlapping tandem duplications of 7.67 kb (South Africans) and 15.93 kb (Norwegians). The duplications segregated with the disease and were located upstream of CTSB, a gene encoding cathepsin B, a cysteine protease involved in keratinocyte homeostasis. Included in the 2.62 kb overlapping region of these duplications is an enhancer element that is active in epidermal keratinocytes. The activity of this enhancer correlated with CTSB expression in normal differentiating keratinocytes and other cell lines, but not with FDFT1 or NEIL2 expression. Gene expression (qPCR) analysis and immunohistochemistry of the palmar epidermis demonstrated significantly increased expression of CTSB, as well as stronger staining of cathepsin B in the stratum granulosum of affected individuals than in that of control individuals. Analysis of higher-order chromatin structure data and RNA polymerase II ChIA-PET data from MCF-7 cells did not suggest remote effects of the enhancer. In conclusion, KWE in South African and Norwegian families is caused by tandem duplications in a non-coding genomic region containing an active enhancer element for CTSB, resulting in upregulation of this gene in affected individuals.

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“…In one patient, systemic steroids temporally resolved the annular lesions. Most promising has been the work by Amin et al, [18] reporting on the use of photodynamic therapy (PDT) for the treatment of systematic KWE. Methyl 5-aminolevulinate was used as the photosensitiser and only two treatments were given, one week apart.…”

Section: Treatmentmentioning

confidence: 99%

The elusive gene for keratolytic winter erythema

et al. 2013

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Keratolytic winter erythema (KWE), also known as Oudtshoorn skin disease, is characterised by a cyclical disruption of normal epidermal keratinisation affecting primarily the palmoplantar skin with peeling of the palms and soles, which is worse in the winter. It is a rare monogenic, autosomal dominant condition of unknown cause. However, due to a founder effect, it occurs at a prevalence of 1/7 200 among South African Afrikaans-speakers. In the mid-1980s, samples were collected from affected families for a linkage study to pinpoint the location of the KWE gene. A genome-wide linkage analysis, using microsatellite markers, identified the KWE critical region on chromosome 8p23.1-p22. Subsequent genetic studies focused on screening candidate genes in this critical region; however, no pathogenic mutations that segregated exclusively with KWE were identified. The cathepsin B (CTSB) and farnesyl-diphosphate farnesyltransferase 1 (FDFT1) genes revealed no potentially pathogenic variants, nor did they show differential gene expression in affected skin. Mutation detection in additional candidate genes also failed to identify the KWE-associated variant, suggesting that the causal variant may be in an uncharacterised functional region. Bioinformatic analysis revealed highly conserved regions within the KWE critical region and a custom tiling array was designed to cover this region and to search for copy number variation. Although the study did not identify a variant that segregates exclusively with KWE, it provided valuable insight into the complex KWE-linked region. Next-generation sequencing approaches are being used to comb the region, but the causal variant for this interesting hyperkeratotic palmoplantar phenotype still remains elusive.

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Photodynamic therapy for the treatment of keratolytic winter erythema

Cited by 7 publications

References 5 publications

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

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

The elusive gene for keratolytic winter erythema

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