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December 1964

Angiokeratoma Corporis Diffusum Universale: Fabry's Disease Case Report and Review Of the Literature

Author Affiliations


Resident in Cardiology, Letterman General Hospital (Capt Wachtel) San Francisco; and Resident in Pathology, William Beaumont General Hospital (Capt Mattei) El Paso, Tex.

Arch Intern Med. 1964;114(6):805-811. doi:10.1001/archinte.1964.03860120117014

Angiokeratoma corporis diffusum universale is a hereditary disease with multiple system involvement resulting from an aberration of lipid metabolism. On the basis of present knowledge, it is best classified as a lipid storage disease. Approximately 45 cases have been described in the world literature. We had the opportunity to study a patient in whom normal renal function was demonstrated despite characteristic renal histopathology. This appears to represent the earliest stage of renal involvement in this disease described to date. Cutaneous and other clinical and laboratory manifestations of the disease were present.

Report of Case  A 19-year-old white male was initially seen at William Beaumont General Hospital because of a rash of long standing. At approximately 11 years of age, he first noted small reddish-black spots on his penis and scrotum. During the ensuing years, he observed small specks of blood on his shorts which he attributed to bleeding from

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