Keratosis palmoplantaris transgrediens et progrediens with mutation in SLURP1

Last Updated: 2019-08-26

Author(s): Anzengruber F., Navarini A.

ICD11: -

Stulli 1826

Mal de Meleda

Palmoplantare hyperkeratosis caused by a mutation in the SLURP1 gene.

Autosomal - recessive mutation in the gene SLURP1.


  • Many symptoms occur soon after birth.
  • Transgrediente hyperkeratosis (affecting the back of the hand and foot). These are sometimes recurrently affected by mycoses, which can lead to a strong malodour. 
  • In addition, extensive erythema, e.g. also perioral, is described.
  • Hyperhidrosis.
  • Koilonychia.
  • Brachydactyly or pseudoainhum syndrome (partial). 



Genetic investigation 

Palmoplantar, also on the back of hands and feet. 

Mycosis superinfections are frequently described.

  1. Perez C, Khachemoune A. Mal de Meleda: A Focused Review. Am J Clin Dermatol. 2016 Feb;17(1):63-70.
  2. Allan CM, Tran D, Tu Y, Heizer PJ, Young LC, Fong LG, Beigneux AP, Young SG. A hypomorphic Egfr allele does not ameliorate the palmoplantar keratoderma caused by SLURP1 deficiency. Exp Dermatol. 2017 Apr 18.