This study showed that treatment of LUTD in children must be individualized, and requires constant monitoring of clinical, laboratory and imaging to minimize the risk of kidney damage.
Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked
manner. It is characterized by the deficiency of the enzyme alpha-galactosidase,
leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of
the cutaneous manifestations of this condition, and it helps making the
diagnosis. The typical site involves the genital area in men and lumbosacral,
buttocks and trunk region in both sexes. We report a case of genital
angiokeratoma in a woman with Fabry disease. The diagnosis is through molecular
analysis and, when made early, starting treatment reduces the morbidity and
mortality of the disease. Thus, the dermatologist has an important role in the
identification of angiokeratoma as a cutaneous marker, and the knowledge of its
different presentations is essential for the early diagnosis and management of
Fabry disease.
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