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 OJPed  Vol.4 No.1 , March 2014
Diagnosis of Fucosidosis through Cutaneous Manifestations
Abstract: Angiokeratoma corporis diffusum is a dermatological hallmark of several inherited lysosomal storage disorders including Anderson-Fabry disease and other enzyme deficiencies such as fucosidosis. We report a 4-year-old boy with neurodevelopment delay who was diagnosed as having fucosidosis following recognition of dermatological signs, angiokeratoma and telangiectasies. The diagnosis was confirmed by leukocyte oligosaccharide enzyme analysis.
Cite this paper: Jihene, B. , Sameh, M. , Hadhemi, B. , Mourad, M. and Lamia, B. (2014) Diagnosis of Fucosidosis through Cutaneous Manifestations. Open Journal of Pediatrics, 4, 76-78. doi: 10.4236/ojped.2014.41010.
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