Answer: C
Gardner’s Syndrome. Rare disorder. May occur at any age. Autosomal dominant.
Near 100% penetrance. 1/3 are spontaneous, and represent new gene mutations.
Gene found on chromosome 5. Is a part of spectrum of diseases characterized by familial colorectal polyposis. Affects the skin, soft tissues, retina, skeletal system, and teeth.
Occur in 1:8,300 to 1:16,000 of live births.
Colonic polyps happen in second decade.
They are adematous and transform into adenocarcinomas.
Extra colonic polyps possible in small intestine and stomach.
Clinical Presentation
Up to 90% of those afflicted have skeletal abnormalities.
Osteomas are the most common associated abnormality.
Skull, paranasal sinuses and mandible.
Mandibular angles, facial deformity.
Noted during puberty, and precede the bowel polyps.
Osteomas present as radiodensities.
Increased incidence of odontomas and supernumerary teeth.
One or more epidermoid cysts of the skin.
Desmoid tumors (fibrous neoplasms) 10%, 3X more in females.
Less common is thyroid carcinoma. Females have it 100X more than males.
A.Treatment and Prognosis
High rate of malignant transformation to invasive adenocarcinoma.
By age 30 , 50% of those with the syndrome will get colorectal carcinoma. Malignant change reaches 100% in older patients.
Prophylactic colectomy recommended. Some osteomas may be removed for function, but the polyps are the main factor.
Other syndromes with intestinal polyposis:
Peutz-Jegher’s Syndrome
Cowden’s Syndrome
Turcot’s Syndrome
Oral and Maxillofacial Pathology, Neville, Damm, Allen, Bouquot, 2nd Ed, 2002 Saunders. Page 567-8
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