Basal cell naevus syndrome: an update on genetics and treatment.

  title={Basal cell naevus syndrome: an update on genetics and treatment.},
  author={Ann M. John and Robert A. Schwartz},
  journal={The British journal of dermatology},
  volume={174 1},
Basal cell naevus syndrome is an autosomal dominant disorder that stems from mutations in multiple genes, most commonly patched 1 (PTCH1). The classic triad of symptoms consists of basal cell carcinomas, jaw keratocysts and cerebral calcifications, although there are many other systemic manifestations. Because of the broad range of symptoms and development of several types of tumours, early diagnosis and close monitoring are essential to preserve quality of life. Targeting treatment is often… CONTINUE READING
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