Keratosis palmoplantaris with mutations in plakophilin 1
Last Updated: 2019-08-26
ICD11: -
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.
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