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A case of Gardners syndrome is described. This illness, inherited by autosomal dominance clinically shows multiple soft tumours, osteotomatosis, occasionally also odeontomata and polyposis intestinalis. The almost invariably occuring malignant degeneration of single intestinal polyps has led to the inclusion of Gardner's syndrome into the group of precancerous conditions.
We present a case of Ruvalcaba-Myhre-Smith syndrome, which, to our knowledge, has not been reported in the radiologic literature. This rare entity is characterized by intestinal polyps, macrocephaly, and hyperpigmented genital macules. The differentiation of this syndrome from other polyposis syndromes is discussed.
The gastrointestinal polyposis syndromes are disorders with multiple intestinal polyps. Three of these disorders, familial adenomatous polyposis, Peutz-Jeghers syndrome and juvenile polyposis are associated with increased risk of colorectal as well as extracolonic cancers. A description of the phenotype and associated cancer risk is provided for each.
Testing of tissue particles for mediator release may be very useful for the diagnosis of localized immunological abnormalities or allergies. The aim of this study was to set up a general procedure to test the reaction of large bowel mucosa to stimuli via the IgE-mediated pathway. Therefore, tissue particles from normal subjects and from patients suffering from different diseases (Crohn's disease, ulcerative colitis, intestinal polyps) obtained at routine coloscopy were exposed to either Hanks or anti-IgE solution to determine the spontaneous or the anti-IgE-induced histamine release, expressed as the percentage of the total histamine content of the biopsy. Histamine was measured using the single isotope radioenzymatic assay. In general, whereas anti-IgE interestingly reduced the histamine release compared to the spontaneous in most of the patients within the polyps group, there was a stimulating effect of anti-IgE throughout all other groups. Thus, the study confirms the possibility of performing functional tests using biopsy particles from the colon.
In 1980 a syndrome was first described in two adult males, consisting of macrocephaly, pigmented macules on the glans and shaft of the penis, and hamartomatous intestinal polyps. Since then, 10 additional cases have been identified. Herein, we present two new cases and review the cutaneous manifestations as well as additional features in patients with the Ruvalcaba-Myhre-Smith syndrome.
The association of multiple tumors of the sebaceous glands with primary visceral carcinomas was described for the first time by Torre in 1967. Another 26 cases with similar features have been subsequently reported in the literature. In 12 of these patients isolated or multiple keratoacanthomas and in 8 intestinal polyps were also found. The authors add the report of a personal case. The patient is a 54-year-old man who, during a period of 8 years, has shown multiple sebaceous tumors, 1 keratoacanthoma, and 3 primary adenocarcinomas of the colon. The outline and nosologic position of this pathologic conditions are discussed.
This report describes three patients with both multiple intestinal polyps and tumors of neural crest origin. This combination of findings may represent a new clinical syndrome. The embryologic relationships between tumors derived from endoderm and tumors derived from neurocrest are described. An inherent defect in tissue proliferation or repair is postulated to explain the abnormal growth in these two different cell lines.
Isoenzymes of lactate dehydrogenase were studied by disc-electrophoresis in polyacrylamide gel, and in the clinic--in 1% agar gel. Oncovirus A12 invasion of the culture of rat embryo fibroblasts (REF) was found to result in the increased percentage of the cathode fractions activity (LDG-4 and LD-5) and in the disappearance of LDG-1 yet during the first day of the experiment prior to hypoxia and enhanced proliferation, i. e. it is most likely to be primary. In the homogenates of cancerous tumor and large intestine polyps of man also a reliable increase of the cathode and a decrease or disappearance of the anode fractions accur. A correlation of the experimental and clinical data allowed a suggestion to be made that LDG isoenzymes changes are genetically conditioned and play an important role in the process of oncogenesis, providing conditions for the increased intensity of glycolysis and proliferation.
Congenital hypertrophy of the retinal pigment epithelium was seen in three affected members of a kindred with Gardner's syndrome. The latter consists of a triad of many intestinal polyps, hard-tissue abnormalities, and soft-tissue abnormalities. Although the appearance of the individual lesions in our patients was typical of hypertrophy of the retinal pigment epithelium, the following atypical features were present: multiple lesions per eye; bilateral occurrence; familial transmission; and association with systemic disease. Ophthalmoscopic examination can help identify children who are at risk of developing polyposis and carcinoma of the colon. In some instances, Gardner's syndrome may be diagnosed in a patient and his family as a result of observing the fundus lesions.
Four patients with the Ruvalcaba-Myhre-Smith syndrome (primary macrocephaly with associated anomalies including pigmented macules on the penis in affected males, hamartomatous intestinal polyps, and lipomas) had evidence of delayed psychomotor development and/or hypotonia in childhood. Electromyography in 3 patients showed evidence of a myopathic process. Muscle biopsy in all four demonstrated a lipid storage myopathy with increased numbers of neutral lipid droplets--predominatly in type 1 fibers. The type 2 fibers were consistently smaller than expected. Electron microscopy was unremarkable except for evidence of lipid accumulation. Muscle carnitine and carnitine palmityl transferase levels were normal in one patient. This appears to be a previously unreported type of lipid storage myopathy characteristic of the Ruvalcaba-Myhre-Smith syndrome, a probable autosomal dominant trait.
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A case of metastasising colonic carcinoma associated with Peutz-Jeghers syndrome in a 39 year old man is described. The caecal adenocarcinoma had metastasised widely to regional lymph nodes and was associated with several other colonic Peutz-Jeghers polyps, showing no evidence of dysplasia or malignancy. It was not possible to determine whether the carcinoma had arisen from a Peutz-Jeghers polyp. The patient also had gastric and small intestinal polyps. The serum carcinoembryonic antigen (CEA) was normal at presentation in this patient and in one other reported case. The use of this determination as a screening test for so-called high risk groups is, therefore, not supported by this report. The risk of malignancy is not known. It will only be determined by careful follow up of a defined Peutz-Jeghers syndrome population and comparison of carcinoma incidence with a matched sample of the general population. A national registry of Peutz-Jeghers syndrome patients in the United Kingdom would help to resolve this question.
One case of diffuse nodular lipomatosis of the small intestine is reported. Four other cases from the literature are revied. Symptomes and signs, diagnosis and differential diagnosis, as well as surgical treament, are discussed.
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