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

Abstract

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 patients 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 Gardners
syndrome.
Key words: FAP (familial adenomatous polyposis), CHRPE
(congenital hypertrophy of retinal pigment epithelium), GS
(Gardners synrome), dermointestinal syndrome, lipoma,
inherited colorectal cancer.