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mal de Meleda - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mal de Meleda

MONDO:0009552

Also known as:Meleda Diseasekeratosis palmoplantaris transgrediens of Siemenstransgrediens palmoplantar keratoderma of Siemens

Overview

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.

GeneticsAutosomal recessive · SLURP1 (chr 8)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Perioral erythema, Fragile nails, Brachydactyly, and Dry, scaly skin (ichthyosis) and 2 more.

Organ System	Phenotype Count	Example Features
Skin	5	Perioral erythema, Fragile nails, Dry, scaly skin (ichthyosis)
Pregnancy and birth

Genetic Landscape

SLURP1 function has not been fully characterized.

Mal de Meleda is associated with mutations in the SLURP1 gene on chromosome 8.

Diagnosis

Genetic testing for SLURP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: 1-9 in 100,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mal de Meleda.

10 publications have been identified in PubMed for mal de Meleda. Research spans Case Report / Case Series (50%), Other (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Patient case studies	5	50%

Data assembled from 6 of 12 sources · Last updated Sep 17, 2026, 11:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:248300

Orphanet

European rare disease database

Orphanet:87503

GARD

Genetic and Rare Diseases Info Center

GARD:92

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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mal de Meleda

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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GARD

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mal de Meleda

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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