Keratosis palmoplantaris with mutations in plakophilin 1
Last Updated: 2023-07-07
Author(s): Anzengruber F., Navarini A.
ICD11: -
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.
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