A Case of Hunter Syndrome with Characteristic Skin Lesions.
- Author:
Cheon Gi KIM
;
Kyung Sool KWON
;
Tae Ahn CHUNG
- Publication Type:Case Report
- Keywords:
Hunter Syndrorne;
Mucopolysaccharidosis II;
Pebbling of the Ski
- MeSH:
Biopsy;
Child;
Collagen;
Coloring Agents;
Cornea;
Fibroblasts;
Hepatomegaly;
Humans;
Hydrogen-Ion Concentration;
Male;
Mucins;
Mucopolysaccharidosis II*;
Scapula;
Skin*;
Tolonium Chloride
- From:Korean Journal of Dermatology
1994;32(6):1090-1094
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
We report a typical case of Hunters syndrr me in a 9 year old boy, who presented with firm skin colored nodules that coalesce to form a reticular pattern on a symmetrical rea between the angles of the scapulas, which is regarded as the pathognornonic cutaneous rnarker, for Hunters syndrome. He also showed growth retardation, clear corneas, hepatomegaly, attertich deficit and mild mental deterioration. The skin biopsy specimen taken frorn a typical nodule shows loosely arranged collagen fibers with massive mucinous material which stains positively with aliar blue at both pH 2.5 and 0.5, metachromatic granules within fibroblast stained with toluidine blue.
