December 2004

Fabry DiseaseMore Than Angiokeratomas

Author Affiliations

Copyright 2004 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2004

Arch Dermatol. 2004;140(12):1526-1528. doi:10.1001/archderm.140.12.1526

More than 100 years ago, the dermatologists William Anderson1 and Johannes Fabry2 each independently reported a case of a male patient with numerous angiokeratomas (AKs) and other symptoms. Today called Anderson-Fabry disease or Fabry disease (FD), this panethnic disorder is the second most prevalent lysosomal storage disease in humans (Online Mendelian Inheritance in Man 301500). Although questioned recently,3 FD, an X chromosome–linked disorder, is considered to be inherited in a recessive fashion.

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