Abstract
Angiokeratoma corporis diffusum universale (ACD) or Fabry’s disease is a familial sphingolipidosis. Its first conspicuous sign is the typical skin change after which the disease is named. In addition, there is involvement of other organs, which determines the course and prognosis. The clinical picture is characterized by pains in the extremities and signs and symptoms resulting from involvement of the vasculature, kidneys and the heart. Slight corneal opacity seems to be uniformly present, but frequently goes unnoticed, since visual acuity is not impaired. The symptomatology includes vasomotor disturbances, impairment of sweat secretion, paresthesias, intolerance of high and low temperatures, fever, anemia, gastrointestinal and cerebrovascular disturbances.
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Kahlke, W. (1967). Angiokeratoma Corporis Diffusum (Fabry’s Disease). In: Schettler, G. (eds) Lipids and Lipidoses. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-87367-6_12
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