Open Journal of Pediatrics, 2014, 4, 76-78 Published Online March 2014 in SciRes. http://www.scirp.org/journal/ojped http://dx.doi.org/10.4236/ojped.2014.41010 How to cite this paper: Jihene, B., et al. (2014) Diagnosis of Fucosidosis through Cutaneous Manifestations. Open Journal of Pediatrics, 4, 76-78. http://dx.doi.org/10.4236/ojped.2014.41010 Diagnosis of Fucosidosis through Cutaneous Manifestations Bouguila Jihene 1* , Mabrouk Sameh 1 , Ben Turkia Hadhemi 2 , Mokni Mourad 3 , Boughammoura Lamia 1 1 Department of Pediatrics, Hospital Farhat Hached, Sousse, Tunisia 2 Department of Pediatrics, Hospital La Rabta, Tunis, Tunisia 3 Department of Dermatology, Hospital La Rabta, Tunis, Tunisia Email: jbouguila@yahoo.fr Received 1 September 2013; revised 2 October 2013; accepted 18 October 2013 Copyright © 2014 by authors and Scientific Research Publishing Inc. This work is licensed under the Creative Commons Attribution International License (CC BY). http://creativecommons.org/licenses/by/4.0/ Abstract Angiokeratoma corporis diffusum is a dermatological hallmark of several inherited lysosomal storage disorders including Anderson-Fabry disease and other enzyme deficiencies such as fuco- sidosis. 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 1. Background Fucosidosis is a rare autosomal recessive lysosomial storage disease resulting from α-L-fucosidase deficiency [1]. Multiple angiokeratoma is the main dermatological feature of Fucosidosis [2]. We report a new case of fu- cosidosis with variable dermatological signs: angiokeratomas, telangiectasies and nail bands. 2. Case Report A boy aged 4 years, born of a consanguineous couple, hospitalized for several times with recurrent chest infec- tions since 18 months. He has a family history of mental retardation in the brother in whom an oligosaccharido- sis was suspected but not confirmed as he died at 5 years. * Corresponding author.