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Article

Mal de Meleda without mutations in the ARS coding sequence.

European journal of dermatology : EJD - 1 Jan 2000

van Steensel Maurice A M, van Geel Michel Van, Steijlen Peter M

Abstract excerpt

Mal de Meleda (Mal de Mljet) is a recessive palmoplantar hyperkeratosis associated with hyperhidrosis, brachydactyly and sometimes pseudo-ainhum. It was recently discovered to be caused by mutations in the ARS gene on chromosome 8. Here we report a patient suffering from Mal de Meleda not associated with ARS mutations. The related E48 and GML genes were also excluded.

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11872406

Genes

GML

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mal de Meleda without mutations in the ARS coding sequence.PMID 11872406Read ↗

Mal de Meleda: genetic haplotype analysis and clinicopathological findings in cases originating from the island of Mljet (Meleda), Croatia.Semantic proximity Read ↗

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Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK 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 ↗

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