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More Than Angiokeratomas

Arch Dermatol. 2004;140:1526-1528.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

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.

It was not until 1967 that a deficient activity of the lysosomal enzyme -galactosidase (-gal) A (Enzyme Catalog No. 3.2.1.22) was identified and found to induce accumulation of the glycosphingolipid globotriaosylceramide (Gb3) in lysosomes of cutaneous and noncutaneous cells.⁴ Lysosomal Gb3 deposition can lead to cellular enlargement (resulting, for instance, in cardiac organomegaly) and organ dysfunction (eg, end-stage renal failure).

Patients with FD have an increased risk of death from renal failure with uremic, cardiac, . . . [Full Text of this Article]

AUTHOR INFORMATION
Matthias Möhrenschlager, MD; Verena Henkel, MD; Johannnes Ring, MD, PhD

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