Fabry disease: clinical and genotypic aspects of three cases in first\ndegree relatives
Case 1: 16-year-old male, with asymptomatic periumbilical lesions since his\nfirst years of life, progressing in number and size for the last 3 years. He presented\nright hypoacusia, tingling in hands and feet and burning plantar pain, which worsened\nwith hot weather and physical activity.\nAt the dermatological exam he presented erythematous-violaceous papules of keratotic\nsurface, grouped on the upper limbs, paravertebral, paraumbilical, inguinal, scrotum and\npenile regions, right thigh and knees ().\nIn the ophthalmological investigation the diagnosis was cornea verticillata (). He presented hearing deficit in the right\near at audiometry. In complementary exams, he showed high 24hours proteinuria (0.14; VR\n< 0.05); remaining exams were normal (blood count, renal function, microalbuminuria,\nECG, spirometry and cranial magnetic resonance imaging-MRI). The deficiency of α-Gal\nactivity was confirmed in the plasma (0.0 umol/h of protein; > 2.5) and leukocytes\nthrough paper filter (0.16 nmol / h / mg of protein; > 1.4). The biopy of umbilical\nlesion resulted compatible with angiokeratoma ().