Painful Fingers, Heat Intolerance, and Telangiectases of the Ear: Easily Ignored Childhood Signs of Fabry Disease

Generalized anhldrosls with heat collapse, painful fingers, and angiokeratomas were the presenting signs in a 23‐year‐old man who was shown by enzyme studies and electron microscopy to have Fabry disease. His 6‐year‐old brother had the early diagnostic findings of episodic painful fingers, heat intolerance, and retroaurlcular telangiectasia. Both had an absence of α‐galactosidase, Over 6 years of observation, the older brother developed progressive renal failure and the younger one developed acrodynla and anhidrosls. Their mother had dlminished α‐galactosidase activity and several anglomatous papules on one breast A review of Fabry disease emphasizes the need for skin Inspection for anglomas and telanglectasia, and enzyme assay in patlents with lnexplicable complaints or lindings. Carrier females are most easily recognized by the presence of unique comeal opacities.