Keratosis palmoplantaris transgrediens et progrediens with mutation in SLURP1
Last Updated: 2019-08-26
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.
- Brachydactyly or pseudoainhum syndrome (partial).
Palmoplantar, also on the back of hands and feet.
Mycosis superinfections are 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.