Peutz-Jeghers syndrome: an increased risk of neoplasia.

A family with Peutz-Jeghers syndrome is reported, colonic involvement having been demonstrated on several affected members. Of the 50 members of the family about whom we could get informations, 21 had the characteristic cutaneous lesions (and usually had had some manifestation of the intestinal disease). Our first patient had a colonic carcinoma, and we could detect at least another colonic carcinoma in the family. A third attained member of the family was known to have died from "throat cancer". The most frequent clinical manifestations of this family patients are intussusception related abdominal crisis of colicky pain and rectorrhagy. In Peutz-Jeghers syndrome, there is a slight increase in the risk of malignancy, and digestive cancer can arise from coexistent adenomas, from cancerous changes of hamartomas, or "de novo", i.e., appear on previously normal mucosa.