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October 1984

ß-Galactosidase and Neuraminidase Deficiency Associated With Angiokeratoma Corporis Diffusum

Author Affiliations

From the Departments of Dermatology (Drs Ishibashi and Tsuboi) and Orthopedics (Dr Shinmei), National Defense Medical College, Tokorozawa, Saitama, Japan.

Arch Dermatol. 1984;120(10):1344-1346. doi:10.1001/archderm.1984.01650460084025

† A 17-year-old Japanese boy was found to have ataxia, generalized angiokeratomas, skeletal deformities, visual impairment, and macular cherry-red spots, without hepatomegaly, splenomegaly, or renal failure. Laboratory examination disclosed a deficiency of β-galactosidase as well as of neuraminidase activity in the leukocytes and fibroblasts, while α-galactosidase and α-L-fucosidase activities were normal. On electron microscopic examination, numerous cytoplasmic vacuoles containing flocculated material were found in the vascular endothelial cells, histiocytes, perineurial cells, and Schwann's cells.

(Arch Dermatol 1984;120:1344-1346)