A family case of a new dermointestinal syndrome: an unknown variant of Gardner’s syndrome?

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2007 (EN)
A family case of a new dermointestinal syndrome: an unknown variant of Gardner’s syndrome? (EN)

N. Xeropotamos, Marria Syrrou, A. Kappas, E.V. Tsianos, G. Baltayiannis, K.H. Katsanos

SUMMARY The dominantly inherited gastrointestinal polyposis syndromes are divided into adenomatous and hamartomatous varieties, depending on the histology of the polyps. Unfortunately, because the age of onset of polyps varies, to exclude the presence of these syndromes, bowel screening must be continued until at least 40 years of age. A 67 year-old man was admitted to our hospital because of altered bowel movements, anemia and a weight loss of 7- Kg during the previous couple of months. Physical examination revealed multiple subcutaneous nodules in his neck, upper and lower extremities. Colonoscopy revealed three colonic adeno-carcinomas and subtotal colectomy was successfully performed. The patient was discharged but came one month later complaining of continuous headache and was diagnosed with malignant meningioma. Two months later the patient came again complaining of severe dysphagia and was diagnosed with esophageal adenocarcinoma. The family tree showed that all male first-degree relatives had megalacric appearing faces with bilateral eylid lipomas and multiple subcutaneous nodules in neck, upper and lower extremities. The patient’s younger brother was operated on at the age of 63 for gastric cancer and one year later three adenomatous polyps were diagnosed. Their father died at the age of 76 years because of bowel adenocarcinoma. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) was noted in the brothers with bowel carcinomas. We have presented a family with a dermointestinal syndrome probably representing a new variant of Gardner’s syndrome. Key words: FAP (familial adenomatous polyposis), CHRPE (congenital hypertrophy of retinal pigment epithelium), GS (Gardner’s synrome), dermointestinal syndrome, lipoma, inherited colorectal cancer. (EN)




Hellenic Society of Gastroenterology (EN)

Annals of Gastroenterology; Volume 16, No 4 (2003) (EN)

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