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

• skin manifestations
  • palmoplantar keratosis, symmetric
  • ichthyosis
  • hyperhidrosis
  • lichenoid plaques
• brachydactyly
• perioral erythema

More general terms

• genetic disease of the skin (genodermatosis)
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/248300
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=50959