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Article

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

Human genetics - 1 Jan 2003

Eckl Katja Martina, Stevens Howard P, Lestringant Gilles G, Westenberger-Treumann Margaretha, Traupe Heiko, Hinz Britta, Frossard Philippe M, Stadler Rudolf, Leigh Irene M, Nürnberg Peter, Reis André, Hennies Hans Christian

Abstract excerpt

Mal de Meleda (MDM) or keratosis palmoplantaris transgrediens of Siemens is an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma (PPK) and transgressive keratosis with an onset in early infancy. There is no associated involvement of other organs; however, a spectrum of clinical presentations with optional and variable features has been described. Mutations in the ARS (component...

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Identifiers

PMID: 12483299
DOI: 10.1007/s00439-002-0838-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.PMID 12483299Read ↗

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

Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of 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 ↗

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

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

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

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

Mal de Meleda: A Focused Review.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 ↗

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

Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.Semantic proximity Read ↗

A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda.Semantic proximity Read ↗

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