광범위한 몽고반점을 동반한 Hunter 증후군

Abstract

We report a case of Hunter syndrome with extensive Mongolian spots. A 4-year-old male baby presented with asymptomatic, firm, raised, ivory-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, and lateral aspects of the thighs. Large Mongolian spots were present over the back. He has low intelligence, short stature, a protuberant abdomen with hepatosplenomegaly, and broad hands with clawlike contractures of the distal interphalangeal joints. The result of qualitative analysis of mucopolysaccharride was positive for the dermatan sulfate and heparan sulfate in the urine. Massive mucinous materials which stained positively with alcian blue were observed from collagen fibers throughout the dermis of skin biopsy specimen. Metachromatic granules within fibroblasts stained with toluidine blue were also seen. This case is reported for its rarity and the typical skin lesions, the recognition of which may be helpful in diagnosis and genetic counselling.