Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion

Summary Generalized angiokeratoma are associated with three lysosomal storage disorders, one of which is Fabry disease (α‐galactosidase A deficiency). Treatment for Fabry disease with supplementation of recombinant enzyme is available in the European Union and subsequently physicians' awareness...

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Bibliographic Details
Published in:British journal of dermatology (1951) 2004-03, Vol.150 (3), p.575-577
Main Authors: Linthorst, G.E., De Rie, M.A., Tjiam, K.H., Aerts, J.M.f.G., Dingemans, K.P., Hollak, C.E.M.
Format: Article
Language:English
Subjects:
angiokeratoma
Angiokeratoma - diagnosis
Angiokeratoma - pathology
angioma
Biological and medical sciences
Biopsy
Dermatology
diagnosis
Diagnosis, Differential
Diagnostic Errors
Dyskeratosis
electron microscopy
Errors of metabolism
Fabry disease
Fabry Disease - diagnosis
Fabry Disease - pathology
Hemangioma - diagnosis
Hemangioma - pathology
Humans
Lipids (lysosomal enzyme disorders, storage diseases)
lysosomal storage disorder
Male
Medical sciences
Metabolic diseases
Middle Aged
Skin Neoplasms - diagnosis
Skin Neoplasms - pathology
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Summary:Summary Generalized angiokeratoma are associated with three lysosomal storage disorders, one of which is Fabry disease (α‐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.
ISSN:0007-0963
1365-2133
DOI:10.1046/j.1365-2133.2004.05813.x