CUTANEOUS MANIFESTATIONS OF FUCOSIDOSIS

Angiokeratoma corporis diffusum (ACD) is still often thought to be syn onymous with Anderson-Fabry disease, a deficiency of alpha-galactosida se, It is important, however, to consider other possible enzyme defici encies in patients with ACD. We report an 8-year-old boy with neurodev elopmental delay who was diagnosed as having fucosidosis following rec ognition of ACD in the dermatology department. Other cutaneous feature s in this patient included distal transverse purple nail bands, acrocy anosis and a naevus anaemicus. Histology and electron microscopy of sk in papules was consistent with angiokeratoma. Skeletal survey demonstr ated dysostosis multiplex, The diagnosis was confirmed by leucocyte ol igosaccharide enzyme analysis, There are only three previous reports o f fucosidosis in the U.K.