Calzavara-Pinton et al. (1995) described a family in which 7 members in 3 generations in a pattern consistent with autosomal dominant inheritance had angiokeratoma corporis diffusum. Five of these 7 individuals also were known to have arteriovenous fistulas. ... Calzavara-Pinton et al. (1995) described a family in which 7 members in 3 generations in a pattern consistent with autosomal dominant inheritance had angiokeratoma corporis diffusum. Five of these 7 individuals also were known to have arteriovenous fistulas. Angiokeratoma lesions appeared in infancy and early adulthood. The patients were otherwise in good health and had no history of acral pain, paresthesias, arthralgias, myalgias, febrile episodes, and gastrointestinal complaints of the type observed in classic Fabry disease (301500). The number of skin lesions ranged widely from a few localized angiokeratomas on the scrotum to more than 100 lesions scattered over the limbs and trunk. In addition, 5 of the patients with angiokeratoma showed asymmetric hypertrophy and grossly evident hyperhidrosis of a leg. Arteriography demonstrated multiple arteriovenous fistulas causing early filling of the veins. No deficiency was found in 3 lysosomal enzymes previously associated with angiokeratoma.