Anderson-Fabry disease. Characteristic ultrastructural features in cutaneous blood vessels in a 1-year-old boy.
Electron microscopy of clinically uninvolved skin taken from a 12-month-old male child with biochemically proven angiokeratoma corporis diffusum showed characteristic lamellar lipid deposits within endothelial and perithelial cells of dermal blood vessels. Ultrastructural examination of skin may aid the early identification of males affected with Anderson-Fabry disease long before the development of specific skin lesions.
D001808:Blood Vessels / Q000648:ultrastructure; D000795:Fabry Disease / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000098:blood supply / Q000648:ultrastructure*