Peutz-Jeghers syndrome. Study of a family and survey of the literature

Peutz-Jeghers syndrome (PJS) is a genetic disease with an autosomic dominant transmission. The 40% of patients present the disease in a sporadic form. There is not a predilection of sex and not all the clinical manifestations of the syndrome are always present in the affected patients. PJS is characterized by skin and mucosal pigmentations (lentigines) associated with hamartomatous polyps of the gastrointestinal tract with a high incidence of neoplastic transformation. Among the non-gastrointestinal neoplasms associated with PJS, endocrine tumors including thyroid cancer and ovarian and Sertoli cell tumors are the most frequent. PJS has been mapped to chromosomal region 19p; a tumor suppressor gene called STK11 or LKB1 is responsible for the disease in families that map to chromosomal region 19p. However, PJS is genetically heterogeneous and a second locus may lie on chromosomal region 19q and/or on another chromosome. A ten year-old boy presenting brown macules and lentigines with a predominant periorificial distribution has been observed; numerous lentigines were localized on labial and oral mucosa as well as on hands and feet. A diagnosis of PJS was suspected. The clinical observation of his father showed the same pigmented lesions particularly evident in the oral cavity, on the lips and in the palmoplantar region. Moreover the father had undergone previous surgical removal of a colonic adenocarcinoma. Despite the fact that at the time of surgery multiple intestinal polyps coli were detected, the finding failed to be correlated with the dermatologic alterations. Clinical recognition of this syndrome at a young age improves clinical outcome and prognosis of the various tumors and decreases associated morbidity and mortality. Observation of multiple pigmented skin and mucosal lesions in a child emphasizes their importance as risk marker of neoplasia of other organs in the patient and in his family.