Mal De Meleda (MDM)

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OMIM 57 248300 Disease Ontology 12 DOID:0060862 ICD10 33 Q82.8 Orphanet 59 ORPHA87503 ICD10 via Orphanet 34 Q82.8 UMLS via Orphanet 74 C0025221

MedGen 42 C0025221 MeSH 44 D007645 KEGG 37 H00695 SNOMED-CT via HPO 69 258211005 128334002 161857006 312230002 364538006 415690000 415691001 52613005 43476002 66270006 52897009 400123002 10165000 20255002 238810007 247441003 271811009 444827008 70819003 86735004 more UMLS 73 C0025221

Genetics Home Reference : ²⁵ Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the skin of the palms of the hands and soles of the feet becomes thick, hard, and callused. In mal de Meleda, the thickened skin is also found on the back of the hands and feet and on the wrists and ankles. In addition, affected individuals may have rough, thick pads on the joints of the fingers and toes and on the elbows and knees. Some people with mal de Meleda have recurrent fungal infections in the thickened skin, which can lead to a strong odor. Other features of this disorder can include short fingers and toes (brachydactyly), nail abnormalities, red skin around the mouth, and excessive sweating (hyperhidrosis).

MalaCards based summary : Mal De Meleda, also known as meleda disease, is related to palmoplantar keratosis and papillon-lefevre syndrome. An important gene associated with Mal De Meleda is SLURP1 (Secreted LY6/PLAUR Domain Containing 1). Affiliated tissues include skin and t cells, and related phenotypes are hyperhidrosis and ichthyosis

Disease Ontology : ¹² A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has material basis in homozygous mutation in the SLURP1 gene on chromosome 8q24.

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 87503Disease definitionMal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : ⁷⁵ Mal de Meleda: A rare autosomal recessive skin disorder, characterized by diffuse transgressive palmoplantar keratoderma with keratotic lesions extending onto the dorsa of the hands and the feet (transgrediens). Patients may have hyperhidrosis. Other features include perioral erythema, lichenoid plaques on the knees and the elbows, and nail abnormalities.

Wikipedia : ⁷⁶ Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and... more...

Description from OMIM: 248300

Clinical features from OMIM:

248300

Search Clinical Trials , NIH Clinical Center for Mal De Meleda

Search GEO for disease gene expression data for Mal De Meleda.