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.



Tumor - Search

  1. Charfeddine C, Ktaifi C, Laroussi N, Hammami H, Jmel H, Landoulsi Z, Badri T, Benmously R, Bchetnia M, Boubaker MS, Fenniche S, Abdelhak S, Mokni M. Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families. J Eur Acad Dermatol Venereol. 2016 Dec;30(12):2122-2130. 
  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.