GARGOYLISM WITH CUTANEOUS MANIFESTATIONS

Abstract

HURLER'S syndrome, gargoylism, lipochondrodystrophy, or dysostosis multiplex was defined by Washington as . . . a disease of congenital origin characterized by chondrodystrophic changes in the skeleton with a tendency toward the deposition of a lipid substance in the tissue, particularly in the brain. On pathologic examination, changes resembling those of amaurotic idiocy are found. The condition appears to combine certain features of Morquio's Disease with some features of Niemann-Pick's Disease. Clinically, it is characterized by dwarf-like stature with marked shortening of the trunk and neck; enlargement and often distortion of the skull with depression of the bridge of the nose and coarseness of facial features; limitation of motion of joints and kyphosis; protrusion of the abdomen with hepato-splenomegaly; clouding of the corneae and mental deficiency. The last two are often absent.¹ REVIEW OF THE LITERATURE Since as far back as 1865, a number of such syndromes have been described, characterized