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.

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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.

Conflicts of Interest

The authors declare no conflicts of interest.

References

[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

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