Vascular Hyalinosis

Rambaud et al. (1986) described a family in which 3 of 7 sibs had marked and progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and calcified areas of the brain. By electron microscopy, they found that the hyaline substance in the intestinal capillaries consisted of concentric layers of basement membrane-like deposits. Extensive deposits of this material were present in the subepithelial and mesangial spaces of the kidneys. The patients had a peculiar phenotype with poikiloderma and graying of the hair in the twenties. Diarrhea, rectal bleeding, malabsorption, and protein-losing enteropathy were the main and lethal clinical problems. Peripheral retinal ischemic changes and chorioretinal scars were found in the ocular fundi of both affected sisters. A subarachnoid hemorrhage due to a right sylvian aneurysm occurred in both sisters. The parents were not consanguineous.