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Palmoplantar Keratoderma of the Gamborg-Nielsen Type is Caused by Mutations in the SLURP1 Gene and Represents a Variant of Mal de Meleda
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2014 (English)In: Acta Dermato-Venereologica, ISSN 0001-5555, E-ISSN 1651-2057, Vol. 94, no 6, 707-710 p.Article in journal (Refereed) Published
Abstract [en]

Palmoplantar keratoderma of the Gamborg-Nielsen type (PPK-GN) is a rare autosomal recessive skin disorder described in patients from Sweden. Mal de Meleda (MDM) is also a rare autosomal recessive inherited PPK first reported in 5 families from the island of Meleda. The 2 conditions phenotypically overlap and are characterised by palmoplantar erythematous hyperkeratotic plaques. The genetic background giving rise to PPK-GN has hitherto been unknown, whereas MDM is known to be caused by mutations in the gene encoding secreted Ly-6/uPAR-related protein 1, SLURP-1. In the present study we scrutinised individuals affected by PPK-GN for mutations in the SLURP1 gene and identified 2 different mutations. Fourteen Swedish patients were homozygous for a previously described mutation, c.43T>C, while one individual was a compound heterozygote with one copy of a novel mutation, c.280T>A, in addition to one copy of the c.43T>C mutation. Hereby we confirm that PPK-GN is an allelic variant of MDM.

Place, publisher, year, edition, pages
Medical Journals Limited , 2014. Vol. 94, no 6, 707-710 p.
Keyword [en]
SLURP1, mal de Meleda, palmoplantar keratoderma, Gamborg-Nielsen, missense mutation
National Category
Infectious Medicine Immunology in the medical area
URN: urn:nbn:se:umu:diva-96971DOI: 10.2340/00015555-1840ISI: 000344307900017OAI: diva2:769823
Available from: 2014-12-09 Created: 2014-12-05 Last updated: 2015-12-16Bibliographically approved

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Lundström, Anita
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Dermatology and Venerology
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