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Case Reports
. 1980 Jul;103(1):81-4.
doi: 10.1111/j.1365-2133.1980.tb15841.x.

Anderson-Fabry disease. Characteristic ultrastructural features in cutaneous blood vessels in a 1-year-old boy

S M Breathnach, M M Black, H J Wallace
Case Reports

Anderson-Fabry disease. Characteristic ultrastructural features in cutaneous blood vessels in a 1-year-old boy

S M Breathnach et al. Br J Dermatol. 1980 Jul.

Abstract

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.

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