Summary
Three cases of the Peutz-Jeghers syndrome in the same family, each representing a different facet of the syndrome, are reviewed. The propositus had the full syndrome (mucocutaneous pigmentation, intestinal polyposis, familial incidence), her brother had the typical pigmentation only, and her father had the typical polyposis only (he had undergone total colectomy at another hospital because of a presumed diagnosis of multiple polyposis of the colon). The pertinent literature is reviewed, and the importance of accurate diagnosis, the various pitfalls in arriving at the diagnosis, the pathologic differentiation, and the differences in treatment are discussed.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Pfutz, J. L. A. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentation of skin and mucus membrane.Nederl. maandschr. geneesk 10:134, 1921.
Jeghers, H., McKusick, V. A., andKatz, K. H. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips, and digits.New England J. Med. 241:993, 1031, 1949.
Calabro, J. J. Hereditable multiple polyposis syndromes of the gastrointestinal tract.Am. J. Med. 33:276, 1962.
Shffman, M. A. Familial multiple polyposis associated with soft-tissue and hard-tissue tumors.J.A.M.A., 179:515, 1962.
Gumpel, R. C., andCarballo, J. D. A new concept of familial adenomatosis.Ann. Int. Med. 45:1045, 1956.
Dawborn, J. K., Ferguson, J., andStanstreet, R. H. Familial polyposis with multiple sebaccous cysts and osteomata: Gardner's syndrome.Australian Ann. Med. 11:195, 1962.
Bartholomew, L. G., Dahlin, D. C., andWaugh, J. M. Intestinal polyposis associated with mucocutaneous melanin pigmentation (Peutz-Jeghers syndrome): Review of literature and report of six cases with special reference to pathologic findings.Gastroenterology 32:434, 1957.
Staley, C. J., andSchwarz, H., II. Gastrointestinal polyposis and pigmentation of the oral mucosa (Peutz-Jeghers syndrome).Surg. Gynec. & Obst. (International Abstracts of Surgery) 105:1, 1957.
Dormandy, T. L. Gastrointestinal polyposis with mucocutaneous pigmentation (Peutz-Jeghers syndrome).New England J. Med. 256:1093; 1141; 1186, 1957.
Dormandy, T. L. The Peutz-Jeghers syndrome.Proc. Roy. Soc. Med. 51:426, 1958.
Achord, J. L., andProctor, H. D. Malignant degeneration and metastasis in Peutz-Jeghers syndrome.Arch. Int. Med. 111:498, 1963.
Bartholomew, L. G., andDahlin, D.C. Intestinal polyposis with mucocutaneous pigmentation (Peutz-Jeghers syndrome): Further comments and report of an additional case.Minnesota Med. 41:848, 1958.
Rintala, A. The histologic appearance of gastrointestinal polyps in the Peutz-Jeghers syndrome.Acta chir. scandinav. 117:366, 1959.
Gannon, P. G., Dahlin, D. C., Bartholomew, L. G., andBeahrs, O. H. Polypoid glandular tumors of the small intestine.Surg. Gynec, & Obst. 114:666, 1962.
Morson, B. C. Pre-cancerous lesions of the upper gastrointestinal tract.J.A.M.A. 179:311, 1962.
Morson, B. C. Pre-cancerous lesions of the colon and rectum.J.A.M.A. 179:316, 1962.
Morson, B. C. Some peculiarities in histology of intestinal polyps.Dis. Colon & Rectum 5:337, 1962.
McKusick, V. A. Genetic factors in intestinal polyposis.J.A.M.A. 182:271, 1962.
Author information
Authors and Affiliations
Additional information
Complete records of Case 3 described in this paper were made available for study through the courtesy of Dr. D. F. Cameron, Bryan, Ohio, and the Flower Hospital, Toledo, Ohio.
Rights and permissions
About this article
Cite this article
Farmer, R.G., Hawk, W.A. & Turnbull, R.B. The spectrum of the Peutz-Jeghers syndrome. Digest Dis Sci 8, 953–961 (1963). https://doi.org/10.1007/BF02232093
Issue Date:
DOI: https://doi.org/10.1007/BF02232093