TITLE:
Diagnosis of Fucosidosis through Cutaneous Manifestations
AUTHORS:
Bouguila Jihene, Mabrouk Sameh, Ben Turkia Hadhemi, Mokni Mourad, Boughammoura Lamia
KEYWORDS:
Angiokeratoma; Telangiectasies; Child; Fucosidosis
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.4 No.1,
March
14,
2014
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.