OJPed  Vol.4 No.1 , March 2014
Diagnosis of Fucosidosis through Cutaneous Manifestations
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.
[1]   Pahwa, P., Meena, D., Tanveer, N., Sharma, V.K. and Sethuraman, G. (2012) Punctate Vascular Papules on the Tongue and Scrotum. Indian Journal of Dermatology, 57, 228-229.

[2]   Kanitakis, J., Allombert, C., Doebelin, B., et al. (2005) Fucosidosis with Angiokeratoma. Immunohistochimical and Electron, Icroscopic Study of a New Case and Literature Review. Journal of Cutaneous Pathology, 32, 506-511. http://dx.doi.org/10.1111/j.0303-6987.2005.00366.x

[3]   Fleming, C., Rennie, A., Fallowfield, M., et al. (1997) Cutaneous Manifestations of Fucosidosis. British Journal of Dermatology, 136, 594-597. http://dx.doi.org/10.1111/j.1365-2133.1997.tb02149.x

[4]   Ben Turkia, H., Tebib, N., Azzouz, H., et al. (2008) Phenotypic Spectrum of Fucosidosis in Tunisia. Journal of Inherited Metabolic Disease, 31, S313-S316. http://dx.doi.org/10.1007/s10545-008-0891-0

[5]   George, S. and Graham-Brown, R.A. (1994) Angiokeratoma Corporis Diffusum in Fucosidosis. Journal of the Royal Society of Medicine, 87, 707.

[6]   Kelly, B. and Kelly, E. (2006) Angiokeratoma Corporis Diffusum in a Patient with No Recognizable Enzyme Abnormalities. Archives of Dermatology, 142, 615-618. http://dx.doi.org/10.1001/archderm. 142.5.615