Fabry’s disease (FD) is an X-linked recessive disorder. The onset of clinical symptoms usually occurs during childhood or adolescence, but may be as late as the third or fourth decade. Early manifestations consist of episodic pain in the extremities and a teleangiectatic scaly maculopapular rash called angiokeratoma corporis diffusum. The angiokeratomas usually appear between the ages of 7 and 10 years and are dark red to black nonblanching macules and papules that range in size from punctate to 4 mm in diameter. They increase in number with time. They have a predilection for the genitals, the upper thighs and the lower trunk, and spare the face, scalp, palms and soles.


Female Carrier Neuronal Group Retinal Artery Occlusion Central Retinal Artery Occlusion Amniotic Fluid Cell 
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Copyright information

© Springer-Verlag Berlin Heidelberg 1995

Authors and Affiliations

  • Marjo S. van der Knaap
    • 1
  • Jacob Valk
    • 2
  1. 1.Department of Child NeurologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Diagnostic RadiologyFree University HospitalAmsterdamThe Netherlands

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