mal de Meleda

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 mutati

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.

Signs and symptoms

• Perioral erythema
• Fragile nails
• Brachydactyly
• Ichthyosis
• Hyperhidrosis
• Congenital symmetrical palmoplantar keratosis

Also known as: MDM; Meleda disease; PPK, Gamborg-Nielsen type; PPKGN; PPKNR