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Hunter Syndrome. Presented by S.G. Ghatia, MD, and J. Blum MD.
The patient is an 8-year-old boy with Hunter syndrome (mucopolysaccharidosis type II) and a pruritic skin eruption on the upper back for one year. There are multiple pale, nontender, white dermal papulonodules 3 to 8 mm in diameter over and below both scapuli. There is also increased hair growth on trunk and extremities. The head is enlarged with scaphocephalic contour and with prominent supraorbital ridges and a wide nasal ridge. There is a short thick neck and a high arched palate. Hands and feet are short and stubby. The skeletal age is about 3 years. Urinalysis was positive for mucopolysaccharides. A skin biopsy specimen with special stains showed normal skin.
Discussion
Dr. Lester Weiss: Hunter syndrome is one of the disorders of mucopolysaccharide metabolism. Much of the new data regarding these diseases have been acquired through the use of