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CC BY-NC-ND 4.0 · Ibnosina Journal of Medicine and Biomedical Sciences 2016; 08(02): 54-57
DOI: 10.4103/1947-489X.210216
Case Report

Gaucher Disease presenting with atypical skin pigmentation in an Arab patient

Husni Hateeti
Department of Haematology, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates
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Gaucher disease (GD) is the most prevalent lysosomal storage disease resulting in accumulation of glucoceramide in lysosomes of the reticuloendothelial system. There are three clinical types of GD; the most common of which is type 1. The clinical spectrum is variable with patients developing anemia, evidence of hypersplenism and pathological fractures that are due to bone involvement, nevertheless, many have a normal life span. A case of typical type 1 GD but with atypical skin pigmentation in a Palestinian patient with strong family history of skin hyperpigmintation and hypersplenism is reported

Key-words:

Gaucher Disease - Lysosomal storage disease - Glucoceramide.


Publikationsverlauf

Eingereicht: 18. März 2015

Angenommen: 04. März 2016

Artikel online veröffentlicht:
07. Juli 2022

© 2016. The Libyan Authority of Scientific Research and Technologyand the Libyan Biotechnology Research Center. All rights reserved. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License,permitting copying and reproductionso long as the original work is given appropriate credit. Contents may not be used for commercial purposes, oradapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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