Multiple lentigines syndrome. Case report and review of the literature

Am J Med. 1976 Mar;60(3):447-56. doi: 10.1016/0002-9343(76)90764-6.


The multiple lentigines syndrome is reviewed and a new case is presented. The major features of this syndrome are lentigines and other cutaneous abnormalities, cardiac defects, meurologic defects, cephalofacila dysmorphism, shortness of stature, skeletal anomalies, genitourinary abnormalities, and a family history consistent with an autosomal dominant mode of inheritance. The multiple lentigines syndrome manifests markedly variable expressivity; no single finding is pathognomonic and few patients have all major features. We propose specific criteria for diagnosis.

MeSH terms

  • Adolescent
  • Endocrine Glands / physiopathology
  • Genes, Dominant
  • Genitalia, Male / abnormalities
  • Heart Defects, Congenital / genetics*
  • Humans
  • Male
  • Nervous System Diseases / genetics
  • Pulmonary Valve Stenosis / genetics
  • Syndrome