Dermatologic manifestations and neuropathic symptoms in women with Fabry disease

Dermatologic manifestations and neuropathic symptoms in women with Fabry disease

Authors

  • Andrea Melpignano Post-Graduate School of Neurology, University of Parma
  • Alessandro Mandurino-Mirizzi Institute of Cardiology, Università Cattolica del Sacro Cuore, Rome
  • Francesca Besagni Postgraduate School Of Dermatology, University of Parma,
  • Annarosa Leri Department of Medicine, Brigham and Woman's Hospital, Harvard Medical School, Boston

Keywords:

Fabry Disease, neuropathy, angiokeratoma

Abstract

Fabry disease (angiokeratoma corporis diffusum universale) is a rare, progressive, X-linked lysosomal storage disease. Deficiency of the α-galactosidase A (α-gal A) enzyme leads to accumulation of neutral glycosphingolipids within vascular endothelial lysosomes of various organs, including skin, kidneys, heart, and brain.1. We herein describe the case of a 30-year-old female presenting two classic signs of Fabry disease, angiokeratomas and episodic acroparesthesias, in the absence of other clinical manifestations. An haplotype corresponding to the combination of three different nucleotide polymorphic variants (g. 7192-7198del5+ g. 10115A>G + g. 10956 C>T) at the heterozygous state, was identified.2

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Published

09-05-2014

How to Cite

1.
Dermatologic manifestations and neuropathic symptoms in women with Fabry disease. Acta Biomed [Internet]. 2014 May 9 [cited 2024 Apr. 25];85(1):81-4. Available from: https://mattioli1885journals.com/index.php/actabiomedica/article/view/3395

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