Diagnosis of Fucosidosis through Cutaneous Manifestations - Open Journal of Pediatrics

OJPed > Vol.4 No.1, March 2014

Diagnosis of Fucosidosis through Cutaneous Manifestations ()

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DOI: 10.4236/ojped.2014.41010 3,888 Downloads 5,114 Views Citations

Author(s)

Bouguila Jihene, Mabrouk Sameh, Ben Turkia Hadhemi, Mokni Mourad, Boughammoura Lamia

Affiliation(s)

Department of Dermatology, Hospital La Rabta, Tunis, Tunisia.
Department of Pediatrics, Hospital Farhat Hached, Sousse, Tunisia.
Department of Pediatrics, Hospital La Rabta, Tunis, Tunisia.

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.

KEYWORDS

Angiokeratoma; Telangiectasies; Child; Fucosidosis

Share and Cite:

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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