| Popis: |
To the Editor.— Widespread angiokeratomas and abnormal ocular vessels occur in Fabry's disease, in several disorders of glycoprotein degradation, and in association with a phenotype suggestive of mucopolysaccharidosis. All of these diseases are characterized by lysosomal inclusions. We describe an apparently normal adult with widespread angiokeratomas and tortuous retinal vessels who has normal activities for many lysosomal enzymes and no lysosomal inclusions. Report of a Case.— A 28-year-old man had noticed steadily increasing numbers of purple lesions on his scrotum, fingers, toes, and eyelids for 12 months. He was well and had no history of febrile episodes, acral pains, or sensory or vasomotor disturbances. There was no history of similar lesions in his two brothers, aged 23 and 24 years, respectively, or in his parents, maternal aunt, or maternal grandfather; neither was there any family history of mental retardation, premature cardiovascular or cerebrovascular disease, or renal disease. |
