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Case Reports
[Diffuse hyperkeratotic papules of the lower abdomen and genital region in a 38-year old male patient].
- T Kuntz, G Mitrakos, B Koushk-Jalali, F Oellig, L Eismann, C Tigges, and A Kreuter.
- Klinik für Dermatologie, Venerologie und Allergologie, HELIOS St. Elisabeth Klinik Oberhausen, Universität Witten/Herdecke, Josefstr. 3, 46045, Oberhausen, Deutschland.
- Internist (Berl). 2020 Jun 1; 61 (6): 621-625.
AbstractA patient with diffuse angiokeratomas of the lower abdomen and genital region was diagnosed with Fabry disease on the basis of genetic testing. Fabry disease is an X-linked lysosomal storage disease that can affect several organ systems including the heart or kidneys, resulting in reduced median survival. Pathogenetically, Fabry disease leads to a deficiency of the lysosomal enzyme α‑galactosidase A (α-GAL A). Treatment options include lifelong enzyme replacement therapy or chaperone therapy.
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