Identification of c.286C>T mutation in the SLURP1 gene in a patient with Mal de Meleda from India

Abstract

Mal de Meleda (MDM, OMIM#248300) is a very rare autosomal recessive skin disease caused by mutations in the SLURP1 gene. It is characterized by classical progressive transgradiens hyperkeratosis of the palms and soles, hyperhidrosis and minor symptoms such as perioral erythema, hyperkeratosis on elbows and knees, pseudo-ainhum, and nail abnormalities. Here, we report a SLURP1 mutation (NM_020427.2: c.286C>T) in a 38 years old Indian male with Mal de Meleda that is compatible with severe clinical features of patients reported from Croatia and Korea with the same mutation.