Familial polyposis associated with a new type of soft-tissue lesion (skin pigmentation)

Abstract

Summary We have described three patients who had the triad of Gardner’s syndrome, with the unusual added feature of skin pigmentation limited to the torso. To lead into a discussion of Gardner’s syndrome with skin pigmentation, the history of all types of familial polyposis was first reviewed. It is a familial disease with Mendelian autosomal dominant inheritance. The colonic polyposis in this syndrome is pathologically similar to, and behaves like that of, familial polyposis. However, the appearance of colonic polyps and subsequent cancer occurs approximately six years later in life. Furthermore, in this syndrome there are obvious external manifestations which should lead one to suspect the presence or possibility of colonic polyposis. A new manifestation with Gardner’s syndrome is the finding of pigmentation confined to the skin of the torso but not to buccal mucosa, lips, face or digits. Is it possible that in these cases there were multiple mutations of separate but closely-linked dominant genes, thus, perhaps, adding another variation to Gardner’s syndrome?