Keratosis palmoplantaris with mutations in plakophilin 1

Last Updated: 2019-08-26

Author(s): -

McGrath 1997

Ectodermal Dysplasia Skin fragility Syndrome

Palmoplantare keratosis with mutation in plakophilin 1 gene.

Autosomal recessive mutation in plakophilin 1 gene.

Palmoplantare Hyperkeratoses - partly also with Rhagaden.

Occurrence of blisters and erosions.

Onychodystrophy.

Alopecia.

Reduced sweat production (hypohidrosis).

Anamnesis.

Clinic.

Genetic analysis.

Biopsy and direct immunofluorescence to exclude Kindler syndrome.

Skin:

  • Keratolysis.
  • Refatting Externa.
  • For blisters or erosions, possibly antiseptic local therapy to avoid secondary impetigination.

Onychodystrophy:

  • No causative therapy.
  1. Kashyap S, Shanker V, Sharma N. Ectodermal Dysplasia-Skin Fragility Syndrome: A Rare Case Report. Indian J Dermatol. 2015 Jul-Aug;60(4):421. 
  2. McGrath JA. Hereditary diseases of desmosomes. J Dermatol Sci. 1999 Jun;20(2):85-91.