Gorlin's syndrome with a cardiac lesion and jaw cysts with some unusual histological features. A case report and review of the literature.
A 25-year-old male with Gorlin's syndrome associated with an intracardiac lesion, presented with jaw cysts requiring surgical treatment. One of the cysts contained unusual histological components including fibrous tissue, myxomatous stroma and abnormal epithelial hyperplasia. Metabolic investigation showed normal parathyroid function and normal tissue responsiveness to parathyroid hormone, despite several clinical and radiological features suggestive of pseudo-hypoparathyroidism. The principal features of the syndrome are reviewed.
D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000473:pathology*; D002280:Basal Cell Carcinoma / Q000473:pathology*; D006338:Heart Neoplasms / Q000473:pathology; D006801:Humans; D007570:Jaw Cysts / Q000473:pathology*; D008297:Male; D008336:Mandibular Diseases / Q000473:pathology*; D008439:Maxillary Diseases / Q000473:pathology*