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Intestinal Polyposis Associated with Mucocutaneous Melanin Pigmentation (Peutz-Jeghers Syndrome)

1957; Elsevier BV; Volume: 32; Issue: 3 Linguagem: Inglês

10.1016/s0016-5085(57)80006-7

1528-0012

Lloyd G. Bartholomew, David C. Dahlin, John M. Waugh,

Genetic factors in colorectal cancer

Rare diseases have a tendency to become more common as interest and diagnostic acumen become focused in their direction.This appears to be the situation in the curious combination referred to as the Peutz-Jeghers syndrome.This syndrome consists of mucocutaneous melanin pigmentation and intestinal polyposis.A third criterion often referred to in the literature is familial incidence.The importance of the familial factor in the diagnosis will be discussed later in greater detail.The pigment, melanin, may appear microscopically as vertical bands throughout the epidermis.! It is located principally around the orifices of the face in regions that are usually uninvolved by freckles.The lips and buccal mucosa are most commonly affected.The pigment is seen less frequently on the fingers and toes.It differs from the pigmentation of Addison's disease in that it is very well localized and is not accentuated in the body folds.It is usually present early in life, often being noted shortly after birth.A tendency for the pigment of the lips and skin to fade in the third decade has been claimed by some observers.The buccal pigment, however, remains prominent.The configuration and color of the pigment are variable and include oval, round or irregular areas of brown, brownish black, blue or gray pigment.The areas range from 1 to 5 mm. in diameter.The polyps have generally been described as benign adenomatous tumors of the bowel.Some polyps, however, have been thought to undergo malignant transformation, but the exact incidence of this change is not known.Jeghers and co-workers!felt that polyps of the small intestine were always present in this syndrome, but this eventually may not prove to be a necessary criterion.The majority of the polyps are located in the small intestine, although they may be found in any portion of the gastrointestinal tract.Our interest in this syndrome was stimulated by three members of one family afflicted with this combination of findings (Cases 1 to 3).A careful review of all the cases of intestinal polyposis seen at the Mayo Clinic from 1935