Meleda disease


mal de Meleda

An autosomal recessive condition (OMIM:248300) causing symmetric palmoplantar hyperkeratosis and acanthosis, with circumscribed hyperkeratosis of wrists, knees, forearms, ankles, brachydactyly, koilonychia, growth and mental retardation, seen in the endogamous population of the island of Meleda off the coast of Dalmatia in former Yugoslavia.
 
Molecular pathology
Mal de Meleda is caused by a mutation of SLURP1 on chromosome 8q24.3.

Mal de Meleda

An autosomal recessive condition (OMIM:248300) causing symmetric palmoplantar hyperkeratosis and acanthosis, with circumscribed hyperkeratosis of wrists, knees, forearms, ankles, brachydactyly, koilonychia, growth and mental retardation, seen in the endogamous population of the island of Meleda off the coast of Dalmatia in former Yugoslavia.
 
Molecular pathology
Mal de Meleda is caused by a mutation of SLURP1 on chromosome 8q24.3.