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). 

Anamnesis 

Clinic 

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.