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.

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.

Conflicts of Interest

The authors declare no conflicts of interest.


[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

Copyright © 2023 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.