Angiokeratoma corporis diffusum with normal enzyme activities

Angiokeratoma corporis diffusum (ACD) was long considered to be caused by a deficiency of a-galactosidase, called Fabry's disease. In fact, ACD may be associated with several other enzyme deficiencies or may not be associated with any enzyme deficiency at all. We report on only the sixth case ever described of isolated ACD, without any detected enzyme deficiency, without inclusions on electron microscopy and without any ophthalmological, neurological or systemic abnormalities.