In the 1920s and 1930s two physicians on opposite sides of the Atlantic ocean published and reviewed case reports about individuals with distinctive mucosal and skin pigment lesions and concurrently had intestinal polyps. Often these individuals were members of the same family. The complex of skin and mucosal pigment abnormalities and associated intestinal polyps would later bare their names, the Peutz-Jeghers Syndrome.
Dr. Harold Jeghers of the United States and Dr. Johannes Peutz of Holland and subsequent investigators of the Peutz-Jeghers Syndrome recognized that these mucocutaneous pigment lesions and concurrent gastrointestinal polyps "must be due to the presence of a single pleiotropic gene, responsible for both characteristics, the polyps and the spots." With the passage of time and continued observations, medical investigators realized that individuals with these clinical findings were at increased risk for neoplasias and a life shortened by cancer.
The syndrome now characterized at the molecular level; had its beginnings in case reports as early as the 1890s.[Conner, Hutchinson] One early report by Dr. Peutz dating back to the winter of 1920 described a 15 year old boy with anorexia, nausea, abdominal pain, weight loss and distinctive pigmentation on his face. Dr. Peutz recalled treating this patient's brother the previous summer. Other family members were found to have abnormalities associated with the syndrome. Four siblings had pigment lesions of the mucosa and three members had intestinal polyposis, while two had nasal polyposis.[Peutz]
Dr. Jeghers' contribution to the understanding of this syndrome came through his studies of prior published cases and his subsequent publication of followup evaluations. His use of a personal medical library, served him in retrieving prior case reports which he used in his review and analysis. Although Dr. Jeghers' studies in the 1940s lacked the statistical rigor of current analyses of the medical literature, his use of the literature in tracking prior cases was unusual for its time. He identified a case report from a 1895 publication, describing 12 year old identical twin sisters having dark pigmented lips, gums and hard palate.[Jeghers] He subsequently obtained followup history of these two individuals. His use of a personal library demonstrated the value of researching medical literature.
The early case reports of the 1920s and 1930s described intussusceptions, a form of intestinal blockage, and gastrointestinal bleeding as complications of this syndrome. As case reports and case studies accumulated throughout the 1950s and 1970s, the association of malignancies as part of the Peutz-Jeghers Syndrome evolved. The intestinal polyps associated with the Peutz-Jeghers Syndrome, described as hamartomatous in nature and their occurrence in unusual sites such as the jejunum, mark the individual as being at increased risk for developing a cancer. Although initially characterized as a syndrome associated with gastrointestinal polyps and other gastrointestinal neoplasms, clinicians have come to realize that tumors of the extra-intestinal organ systems could also develop.
Much has been learned over the past decades about the Peutz-Jeghers Syndrome. The benign nature of the skin and mucosal findings belie the more sinister nature of the syndrome's malignant predisposition. In recent times the Peutz-Jeghers Syndrome has become the focus of molecular genetic studies.
The ease with which international collaboration regarding medical matters occurs today is a far cry from that existing in the era of Drs. Jeghers and Peutz. The understanding of the Peutz-Jeghers Syndrome which evolved over decades would today most probably occur in months. Peutz-Jeghers Syndrome is thoroughly described in medical publications and is recognized as occurring in the world's population.