Keratosis palmoplantaris papulosa Buschke-Fischer-Brauer
Last Updated: 2019-08-26
ICD11: -
Last Updated: 2019-08-26
Author(s): Anzengruber F., Navarini A.
ICD11: -
Buschke und Fischer 1910
Brauer 1913
Keratoderma, palmoplantar, punctate type IA. OMIM 148600.
Palmoplantar keratosis, which can be associated with an increased risk of malignancy.
Autosomal - dominant inheritance, mutations in the AAGAB gene. Localization 15q23. This gene encodes the alpha- and gamma-adaptin-binding protein p34. It plays a role in membrane transport.
Usually in/after puberty, various symptoms appear for the first time.
Punctual hyperkeratoses palmoplantar.
Nail dystrophies.
Increased risk of lymphoma and solid tumours.
Anamnesis
Clinic
Tumor - Search
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