Keratosis palmoplantaris with mutations in plakophilin 1

Last Updated: 2023-07-07

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

ICD11: -

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.

Skin:

  • Keratolysis.
  • Remoisturising extender.
  • In case of blisters or erosions, antiseptic local therapy if necessary to avoid secondary impetiginisation.

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. 

 

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