Nail-patella syndrome. A distinctive clinical and electron microscopic presentation.
A case of nail-patella syndrome is presented in which cerebral vessel and aortic dilatation was noted. The skin revealed epidermal basement membrane thickening and redundancy in addition to significant perivascular basal lamina reduplication by electron microscopy. The significance of these findings is discussed.
D000328:Adult; D001485:Basement Membrane / Q000473:pathology; D004727:Endothelium / Q000473:pathology; D004817:Epidermis / Q000473:pathology; D006801:Humans; D008297:Male; D009261:Nail-Patella Syndrome / Q000473:pathology*; D012867:Skin / Q000473:pathology