How Dermatologists Can Help

Dermatologists can play a critical role in the detection of Fabry disease. Patients with Fabry disease often present with angiokeratomas. By recognizing the early signs and symptoms, dermatologists have the opportunity to identify Fabry disease earlier in the disease course. A geneticist can help establish a definitive diagnosis and provide information on interventions.

Angiokeratomas

The most recognizable clinical feature of Fabry disease is angiokeratomas. These dark red or purple skin lesions (ranging in size from a pinpoint to several millimeters in diameter) do not blanch with pressure, and are usually distributed on the buttocks, groin, umbilicus, and upper thighs (bathing trunk distribution). Lesions generally appear in adolescence or young adulthood, and may become larger and more numerous with age. Angiokeratomas are almost universal in male hemizygotes; they occur in approximately 30% of heterozygous females.1, 2

Angiokeratomas in Fabry disease

 angiectases are typically found between the thigh and umbilicus regions known as, "bathing suit distribution"

Clusters of these characteristic angiectases are typically found between the umbilicus and thigh in patients with Fabry disease (left buttock shown left; umbilicus shown right). Used with permission from R.J. Desnick, MD, Phd.

Additional dermatological findings

In addition to angiokeratomas, patients with Fabry disease may present with:

  • Lymphedema of the legs.
  • Hypohidrosis/anhidrosis. Learn more
  • “Burning” pain in the hands and feet. Learn more
  • Heat/cold and exercise intolerance. Learn more

Other clinical manifestations

Patients with Fabry disease may present with comorbidities such as:

  • Progressive and/or unexplained chronic kidney disease. Learn more
  • Premature cardiac disease. Learn more
  • Premature stroke. Learn more
  • Corneal and lenticular abnormalities (seen through slit lamp; typically does not affect vision). Learn more

Downloads

Dermatologists' Disease Sheet (PDF)

References:

1. Desnick RJ, YA Ioannou, CM Eng. α-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001: 3733-3774.

2. Menkes DL. Images in neurology. The cutaneous stigmata of Fabry disease: an X-linked phakomatosis associated with central and peripheral nervous system dysfunction. Arch Neurol. 1999;56:487.