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May 19, 1969, Vol 208, No. 7 >

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ARTICLE | May 19, 1969

Fabry's Disease

Charles W. Johnson, MC; George B. Skipworth, MC
JAMA. 1969;208(7):1190. doi:10.1001/jama.1969.03160070068023.
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To the Editor:—  The following is a case report of Fabry's disease. The report is submitted for the purpose of aiding in establishing the incidence of the malady. The disease is becoming recognized with increasing frequency.

Report of a case:—  This 24-year-old white man relates that he has had a rash about his leg and inguinal areas since early childhood. The patient has been aware of easy tiring and lack of sweating. In addition, he has described episodes of "bone pain" involving the arm and leg, which are brought about by temperature changes and by exercise and generally are relieved by rest. The patient does not recall any episodes of unexplained fever as a child.The patient's mother, brother, one male cousin, and two great-uncles (one of which died at age 45 of unknown cause) have bone pains and a skin rash allegedly similar to that of the patient. All

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