Keratosis palmoplantaris with mutations in plakophilin 1

Last Updated: 2019-08-26

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

ICD11: -

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.

  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.