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Case Studies | Medicine Science | India | Volume 4 Issue 9, September 2015

Fabry's Disease: A Case Report and Review of Literature

Dr. A. V. Pitchi Reddy M. S | Dr. V. Raja Sekhar M. S

Abstract: Case history A 27 yr old male patient, pursuing his post graduation was referred from dermatology, with a chief complaint of small red raised lesions on flanks, abdomen and scrotum since the age of 12yrs. H/o present illness Skin lesions 1st appeared - flanks 15 years back. Lesions gradually progressive - involved scrotum, thighs and medial aspects of upper arms over 6 years period. h/o lethargy and tiredness present No h/o alterations in sweating No h/o episodes of abdominal pain and diarrhoea No h/o intolerance to cold and heat No h/o any growth abnormalities or developmental delay. No h/o defective vision. Past history burning and pricking sensation on hands and feet especially after physical stress, since the age of 5 yrs. No history of hypertension, diabetes mellitus, Coronary artery disease, cerebro vascular accidents. Personal History nil Family history nil particular

Keywords: Conjunctival vascular aneurysms, cornea verticillata, angiokeratoma, Orthohyperkeratosis, acanthosis, alpha galactosidase A, Fabrys outcome survey, Fabrazyme, Replagal

Edition: Volume 4 Issue 9, September 2015,

Pages: 451 - 453