mal de Meleda
Findings
No curated finding names mal de Meleda yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.
Definition from the Mondo Disease Ontology (MONDO:0009552), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal foot morphologyHPOHP:0001760
- Very frequent (80% to 99% of cases)
- Abnormality of the handHPOHP:0001155
- Very frequent (80% to 99% of cases)
- Inflammatory abnormality of the skinHPOHP:0011123
- Very frequent (80% to 99% of cases)
- Nonepidermolytic palmoplantar hyperkeratosisHPOHP:0007404
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- Superficial dermal perivascular inflammatory infiltrateHPOHP:0031190
- Very frequent (80% to 99% of cases)
Show the remaining 6
- Hyperkeratosis with erythemaHPOHP:0007390
- Frequent (30% to 79% of cases)
- IchthyosisHPOHP:0008064
- Occasional (5% to 29% of cases)
- Lichenoid skin lesionHPOHP:0031452
- Occasional (5% to 29% of cases)
- BrachydactylyHPOHP:0001156
- Congenital symmetrical palmoplantar keratosisHPOHP:0007553
- Perioral erythemaHPOHP:0033194
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLURP1HGNC:18746
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: mal de Meleda
- Also called
- keratosis palmoplantaris transgrediens of SiemensMeleda Disease