Angiokeratoma corporis diffusum (Anderson-Fabry's disease): a case report

We report on a 14-year-old boy who presented with a C-year history of acral pains and febrile episodes. On physical examination, numerous small reddis h papules were present on his abdomen, located predominantly on the periumb elical region. Renal function was within normal limits. Ophthalmological ex amination revealed whorled opacities of the cornea (cornea verticillata) an d dilated tortuous conjunctival vessels. Histopathological examination of o ne of the cutaneous papules showed several dilated blood vessels in the sup erficial dermis surrounded by collarettes of thickened rete ridges, consist ent with a diagnosis of angiokeratoma. The electron-microscopic study of a skin specimen demonstrated the presence of dilated lysosomes with depositio n of electron-dense bodies, some of which with laminated structure, in endo thelial cells and fibroblasts. These findings were regarded as indicative o f Fabry's disease. Subsequent biochemical analysis confirmed the presence o f a a-galactosidase A deficiency in leukocytes. In conclusion, we described the clinical, histopathological and submicroscopic findings of a case of F abry's disease, in which the combination of electron microscopic and bioche mical approaches allowed the correct diagnosis.