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Article

Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.

Acta dermato-venereologica - 1 Nov 2014

Zhao Linshu, Vahlquist Anders, Virtanen Marie, Wennerstrand Lena, Lind Lisbet K, Lundström Anita, Hellström Pigg Maritta

Abstract excerpt

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...

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Identifiers

PMID: 24604124
DOI: 10.2340/00015555-1840

Genes

SLURP1

Variants

Provenance

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.PMID 24604124Read ↗

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.Semantic proximity Read ↗

Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.Semantic proximity Read ↗

Mutations in the gene encoding SLURP-1 in Mal de Meleda.Semantic proximity Read ↗

Mal de Meleda: A Focused Review.Semantic proximity Read ↗

Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.Semantic proximity Read ↗

A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.Semantic proximity Read ↗

SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.Semantic proximity Read ↗

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.Semantic proximity Read ↗

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani familiesSemantic proximity Read ↗

Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous.Semantic proximity Read ↗

Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda.Semantic proximity Read ↗

Clinical and genetic characteristics of Nagashima-type palmoplantar keratoderma: A single-centre cross-sectional studySemantic proximity Read ↗

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