The differential diagnosis of familial lentiginosis syndromes

Fam Cancer. 2011 Sep;10(3):481-90. doi: 10.1007/s10689-011-9446-x.


Cutaneous markers of systemic disease are vital for clinicians to recognize. This chapter outlines familial lentiginosis syndromes that include Peutz-Jeghers syndrome, Carney Complex, the PTEN hamartomatous syndromes, and LEOPARD/Noonan syndrome. The inheritance of these syndromes is autosomal dominant; they also share characteristic skin findings that offer a clue to their recognition and treatment. We will discuss the clinical presentation of these disorders, with a focus on the dermatological manifestations, and will provide an update on the molecular mechanisms involved. Recognition of cutaneous markers associated with these rare familial cancer syndromes provides the opportunity to pursue early surveillance for malignancies, as well as genetic counseling.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Humans
  • Lentigo / diagnosis*
  • Lentigo / genetics*
  • Peutz-Jeghers Syndrome / diagnosis*
  • Peutz-Jeghers Syndrome / genetics*