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Year : 2016  |  Volume : 8  |  Issue : 2  |  Page : 54-57

Gaucher Disease presenting with atypical skin pigmentation in an Arab patient

Department of Haematology, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates

Correspondence Address:
Husni Salman Hateeti
Department of Haematology, Sheikh Khalifa Medical City, Abu Dhabi
United Arab Emirates
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1947-489X.210216

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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

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