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.