PEBBLING OF THE SKIN - A MARKER OF HUNTERS-SYNDROME

A 9-year-old boy, the third child of nonconsanguinous parents, present ed with asymptomatic, solid, raised skin lesions over the upper back. They first appeared at the age of 4 years. Gradually similar lesions a ppeared over the chest, neck, arms, and thighs. On examination, he had firm, hypopigmented to skin-colored papules and nodules which coalesc ed to form ridges in a reticular pattern (pebbling of the skin) and we re arranged bilaterally and symmetrically over the scapulae, pectoral region of the chest, and lateral aspects of the arms and thighs. They resembled sulci and gyri of the brain. He had normal intelligence, sho rt stature, coarse facial features, thick lips, a large tongue, clear corneas, a protuberant abdomen with hepatosplenomegaly, and broad hand s with clawlike contractures of the distal interphalangeal joints. Inv estigations revealed cardiomegaly and proximal tapering of metacarpal bones. Although peripheral blood smear and urine spot test for mucopol ysaccharides were negative, histopathology of a representative skin le sion was compatible with the diagnosis of Hunter's syndrome. The case is reported for its rarity and the typical skin lesions, the recogniti on of which may be helpful in diagnosis and genetic counseling.