The pebble sign: A cutaneous clue to the diagnosis of Hunter syndrome

A 5-year-old boy, the firstborn and only child of non-consanguineous parents, presented with asymptomatic, symmetric skin lesions over the upper back, arms, and thighs, noticed since early infancy.He had global developmental delay, coarse facial features, hepatosplenomegaly, an umbilical hernia, and dysostosis multiplex on skeletal survey.Cutaneous examination revealed firm, skin-colored to ivory-white papules and nodules coalescing into ridges arranged in a reticular pattern, distributed symmetrically between the medial borders of both scapulae extending to the inferior scapular angles, and over the lateral aspects of the upper arms and thighs, giving the skin a pebbled appearance [Figure 1].e overlying skin was non-tender and non-pruritic.