Keratosis palmoplantaris transgrediens et progrediens with mutation in SLURP1

Last Updated: 2023-07-07

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

ICD11: -

Stulli 1826

Mal de Meleda

Palmoplantar hyperkeratosis, which is due to a mutation in the SLURP 1 gene.

Autosomal – recessive mutation in the gene SLURP 1.

 

  • Many symptoms occur soon after birth.
  • Transgressive hyperkeratosis (spreading to the dorsum of the hands and feet).
  • In addition, two-dimensional erythema, e.g. also perioral, has been described.
  • Pseudoainhum – syndrome
  • Hyperhidrosis.
  • Coilonychia.

Anamnesis

Clinical

Genetic examination

Mycotic superinfections have been 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.