A Case of Hunter's Syndrome.
10.5021/ad.1990.2.2.132
- Author:
Gi Bum SUHR
;
Jeung Hoon LEE
;
Jang Kyu PARK
;
Kye Yong SONG
- Publication Type:Case Report
- Keywords:
Hunter's syndrome
- MeSH:
Alcian Blue;
Child;
Collagen;
Cornea;
Creatinine;
Glycosaminoglycans;
Humans;
Hydrogen-Ion Concentration;
Korea;
Male;
Mucopolysaccharidosis II*;
Thorax
- From:Annals of Dermatology
1990;2(2):132-135
- CountryRepublic of Korea
- Language:English
-
Abstract:
We report a case of Hunter's syndrome in an 8-year-old boy, who presented with ivory-white colored papules and ridges on the left chest area, which were regarded as pathognomonic cutaneous markers for Hunter's syndrome. He also showed growth retardation, dear corneas, hepatosplenomegaly and fair intellect. The histopathological findings of papular lesions revealed loosely arranged collagen fibers with massive mutinous material which stained positively with alcian blue at both pH 2.0 and 0.5. On quantitation of glycosaminoglycans by hexuronic add assay in 24-hour urine, excessive excretion of creatinine was noted. To the best of our knowledge, this is the first case in Korea.
