Unique association of non-functioning pheochromocytoma, ganglioneuroma, adrenal cortical adenoma, hepatic and vertebral hemangiomas in a patient with a new intronic variant in the VHL gene.
Abnormal retinal vascular leakage suggests the possible effects of overexpressed vascular permeability factors such as vascular endothelial growth factor from hemangiomas associated with defective VHL gene.
Genetic analysis of the angioma showed allelic deletion of the VHL gene locus, suggesting that the origin of the angiomas was directly related to the patient's underlying VHL disease.