Keratosis palmoplantaris papulosa Buschke-Fischer-Brauer

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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  2. Giehl KA, Herzinger T, Wolff H, Sárdy M, von Braunmühl T, Dekeuleneer V, Sznajer Y, Tennstedt D, Boes P, Rapprich S, Wagner N, Betz RC, Braun-Falco M, Strom T, Ruzicka T, Eckstein GN. Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability. Acta Derm Venereol. 2016 May;96(4):468-72. 
  3. Podder I, Das A, Bhattacharya S, Shome K, Chowdhury SN. Buschke-Fischer-Brauer Keratoderma: Linear Variety Associated with Hodgkin's Lymphoma. Indian J Dermatol. 2015 May-Jun;60(3):322.