Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion.
case_report · Level V
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- Record sourced from PubMed, PMID 15030345.
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Abstract
Generalized angiokeratoma are associated with three lysosomal storage disorders, one of which is Fabry disease (alpha-galactosidase A deficiency). Treatment for Fabry disease with supplementation of recombinant enzyme is available in the European Union and subsequently physicians' awareness may rise. A patient who was erroneously diagnosed with Fabry disease is presented.
Medical subject headings
- Angiokeratoma
- Diagnostic Errors
- Fabry Disease
- Hemangioma
- Skin Neoplasms