Keratosis palmoplantaris transgrediens et progrediens with mutation in SLURP1
Last Updated: 2023-07-07
Author(s): Anzengruber F., Navarini A.
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
Mycotic superinfections have been frequently described.
- Perez C, Khachemoune A. Mal de Meleda: A Focused Review. Am J Clin Dermatol. 2016 Feb;17(1):63-70.
- 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.