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Genetics of skin appendage neoplasms and related syndromes
  1. D A Lee,
  2. M E Grossman,
  3. P Schneiderman,
  4. J T Celebi
  1. Department of Dermatology, Columbia University Medical Center, New York, USA
  1. Correspondence to:
 Dr Julide Tok Celebi
 Department of Dermatology, Columbia University, 630 West 168th Street, VC-15-202, New York, NY 10032, USA;


In the past decade the molecular basis of many inherited syndromes has been unravelled. This article reviews the clinical and genetic aspects of inherited syndromes that are characterised by skin appendage neoplasms, including Cowden syndrome, Birt–Hogg–Dube syndrome, naevoid basal cell carcinoma syndrome, generalised basaloid follicular hamartoma syndrome, Bazex syndrome, Brooke–Spiegler syndrome, familial cylindromatosis, multiple familial trichoepitheliomas, and Muir–Torre syndrome.

  • BCC, basal cell carcinoma
  • BHDS, Birt–Hogg–Dube syndrome
  • BRRS, Bannayan–Riley–Ruvalcaba syndrome
  • BSS, Brooke–Spiegler syndrome
  • FC, familial cylindromatosis
  • GBFHS, generalised basaloid follicular hamartoma syndrome
  • MFT, multiple familial trichoepithelioma
  • MTS, Muir–Torre syndrome
  • NBCCS, naevoid basal cell carcinoma syndrome
  • genodermatosis
  • cancer
  • skin
  • genetics
  • mutation

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  • Competing interests: none declared