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A Pathological Basis for the Cutaneous Papules of Mucopolysaccharidosis II (The Hunter Syndrome)

Cutaneous papules of two patients with the Hunter syndrome (mucopolysaccharidosis II) were compared with their normal appearing skin by light and electron microscopic techniques. While most fibrocytes of normal and papular skin contained metachromatic cytoplasmic material and characteristic vacuoles, only the papules had extracellular accumulation of metachromatic material and evidence of coalescence and rupture of vacuoles. Alcohol fixation provides better preservation of the mucosubstances.