Angiokeratoma corporis diffusum: the evolution of a disease entity

Abstract

SummaryThe clinical features, diagnosis, management, aetiology and inheritance of angiokeratoma corporis diffusum (Fabry's disease) are discussed and the literature reviewed. The treatment and knowledge generally of this rare condition have not greatly improved in 75 years. IntroductionThe original clinical descriptions of angiokeratoma corporis diffusum were published independently by Fabry in Germany and Anderson in London in 1898. Since then, discussion and research have expanded and explored many aspects of the disease-its clinical spectrum, mode of inheritance, histology and biochemistry. In the last 10 years, some attempts at treatment have been made.Despite the constant trickle of publications on this condition and its allied sub-specialities, and its inclusion in all the major medical textbooks, physicians are still not as aware of it as they are of some other medical rarities. Delays in diagnosis are frequent and its clinical manifestations need constant reiteration.