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Meleda disease; mal de meleda; keratosis palmoplantaris transgradiens
Epidemiology:
- typically presents in early infancy
- high incidence Island of Meleda,
Genetics:
- autosomal recessive
- associated with mutations in SLURP1 gene
Clinical manifestations:
1) skin manifestations
a) palmoplantar keratosis, symmetric
b) ichthyosis
c) hyperhidrosis
d) lichenoid plaques
2) brachydactyly
3) perioral erythema
General
genetic disease of the skin (genodermatosis)
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 248300
Entrez Gene 50959
References
OMIM 248300