Luna PC, Valdez RM, Carabajal G

Language: Spanish
References: 6
Page: 238-240
PDF size: 134.69 Kb.

ABSTRACT

Fabry disease (Anderson-Fabry disease) is a rare lysosomal storage disorder. It is due to the absence or low alfa galactosidaes A activity and the secondary deposit of (globotriaocilceramide) GL3 in the lysosomes of the endothelias of several organs specially skin, kidneys, heart, central nervous system among others. It´s natural history tends towards a great morbidity and a reduction of life expectancy of around 30 years for men a 20 for women. It´s main dermatologic manifestation are the angiokeratomas in the bathing trunk area (known as angiokeratoma corporis diffusum). We here by present a 46 year old patient with a severe Fabry disease , few angiokeratomas and eruptive syringomas over the bathing trunk area.

REFERENCES

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