Intrathoracic and multiple abdominal pheochromocytomas in von Hippel-Lindau disease.
A patient had von Hippel-Lindau disease, a functional intrathoracic paraganglioma (pheochromocytoma), bilateral adrenal pheochromocytomas, and a para-adrenal pheochromocytoma. Seven other members of the patient's family had features of von Hippel-Lindau disease and one, a cousin, had medullary carcinoma of the thyroid. This is the first report of a pheochromocytoma arising outside the abdomen in von Hippel-Lindau disease and the 25th report of intrathoracic pheochromocytoma in the literature. The association between von Hippel-Lindau disease and pheochromocytoma is reviewed.
D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D000328:Adult; D000798:Angiomatosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009378:Neoplasms, Multiple Primary; D010375:Pedigree; D010673:Pheochromocytoma / Q000235:genetics*; D013899:Thoracic Neoplasms / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000235:genetics*