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Buschke-Fischer-Brauer syndrome

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A syndrome present from birth affecting both sexes, with less severe manifestations in females. It is characterised by keratosis palmaris et plantaris, hair hypoplasia, onycholysis, onychogryposis, hyperhidrosis of the hands and feet, occasional clubbing of the distal phalanges of the toes and fingers. Progeria, apathy, mental retardation, oedema of the eyelids, and xeroderma. Aetiology unknown. Inheritance is autosomal dominant.


  • A. Buschke, H. Fischer:
    Keratodermia maculosa disseminata symmetrica palmaris et plantaris.
    A. Neisser, E. Jacobi (publishers): Ikonographia dermatologica. Atlas seltener, neuer und diagnostisch unklarer Hautkrankheiten, Volume I: 1833-1920?. Urban & Schwarzenberg, Berlin, 1910.
  • A. Brauer:
    Über eine besondere Form des hereditären Keratoms (Keratoma dissipatum hereditarium palmare et plantare).
    Archiv für Dermatologie und Syphilis, Berlin, 1913, 114: 211-236.
  • H. Fischer:
    Familiär hereditäres Vorkommen von Keratoma palmare et plantare, Nagelveränderungen, Haaranomalien und Verdickungen der Endglieder der Finger und Zehen in 5 Generationen. (Die Beziehungen dieser Veränderungen zur inneren Sekretion).
    Dermatologische Zeitschrift, Berlin, 1921, 32: 114-142.
  • W. Volavsek:
    Zur Klinik der Nagelveränderungen und Palmarkeratose bei Syringomyelie.
    Archiv für Dermatologie und Syphilis, Berlin, 1942, 182: 52-57.

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