Pebbling of the skin: a marker of Hunter's syndrome.

Abstract

A 9-year-old boy, the third child of nonconsanguinous parents, presented with asymptomatic, solid, raised skin lesions over the upper back. They first appeared at the age of 4 years. Gradually similar lesions appeared over the chest, neck, arms, and thighs. On examination, he had firm, hypopigmented to skin-colored papules and nodules which coalesced to form ridges in a reticular pattern (pebbling of the skin) and were 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, short stature, coarse facial features, thick lips, a large tongue, clear corneas, a protuberant abdomen with hepatosplenomegaly, and broad hands with clawlike contractures of the distal interphalangeal joints. Investigations revealed cardiomegaly and proximal tapering of metacarpal bones. Although peripheral blood smear and urine spot test for mucopolysaccharides were negative, histopathology of a representative skin lesion was compatible with the diagnosis of Hunter's syndrome. The case is reported for its rarity and the typical skin lesions, the recognition of which may be helpful in diagnosis and genetic counseling.