Metabolic Disorders Characterized by Angiokeratomas and Neurologic Dysfunction

Fabry disease and the skin: data from FOS, the Fabry outcome survey

“…Although angiokeratomas are seen in other LSDs, 5–8 they are the cutaneous hallmark of Fabry disease (Fig. 1a, b).…”

Vulvar angiokeratoma

“…When associated with lesions in other areas of the body, usually it is related to Fabry's disease, which is a disorder caused by a deficiency of alpha-galactosidase (Paller 1987;Frank et al 1996). There are also other systemic symptoms associated with it, such as ataxia, generalised angiokeratomas, skeletal deformities, visual impairment, paraesthesias, renal and cardiac insufficiency and cerebrovascular and macular cherry-red spots (Ishibashi 1984;Frank et al 1996).…”

Fabry Disease

“…When used early, recombinant human ␣-gal replacement therapy [46][47][48][49] gives patients a greater chance to reverse some of the cardiovascular and renal manifestations that occur in older individuals. …”