A 36-year-old Turkish Cypriot woman was evaluated for complications of fucosidosis. Definitive diagnosis
had been confirmed elsewhere by enzyme assay of alpha fucosidase. Angiokeratomas were first noticed at age 9 and spread to cover the entire body. The patient complained of pain in large jonts and bleeding from angiokeratomas in the genital area. Angiokeratoma diffusum corporis is a classical but not specific or ensitive sign of fucosidosis. The differential diagnosis includes angiokeratoma of the scrotum (Fordyce), adult type beta-galactosidase deficiency, aspartylglucosaminuria, adult onset variant of
alpha-N-acetylgalactosaminidase deficiency, sialidosis and Fabry disease. Laser therapy was recommended.
multiple 1-2 mm reddish purple macules and slightly elevated papules