Keratosis palmoplantaris with mutations in plakophilin 1

Last Updated: 2023-07-07

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

ICD11: -

  • Palmoplantar keratoses

McGrath 1997

Ectodermal dysplasia skin fragility syndrome

Palmoplantar keratosis with mutation in the plakophilin 1 gene.

Autosomal recessive mutation in the plakophilin 1 gene.

Palmplantar hyperkeratosis- sometimes also with rhagades.

Occurrence of blisters and erosions.

Onychodystrophy.

Alopecia.

Diminished sweat production (hypohidrosis).

Anamnesis.

Clinical.

Genetic analysis.

Biopsy and direct immunofluorescence to exclude Kindler syndrome.

  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.