ORAL MANIFESTATIONS OF INFANTILE SYSTEMIC HYALINOSIS

Oral manifestations of infantile systemic hyalinosis in a child of Asian origin are presented. Infantile systemic hyalinosis is a rare fatal condition with probably an autosomal recessive mode of inheritance. The symptoms become apparent soon after birth and death usually occurs before the age of two years. The systemic features are essentially due to widespread deposition of hyaline material in tissues. These include thickening and nodularity of skin, growth failure, joint contractures, osteoporosis, diarrhoea and recurrent infections. The oral changes in the case reported here included thickening of the oral mucosa, extensive overgrowth of gingival tissue, osteoporosis, marked curvature of the dental roots, and replacement of periodontal ligament by hyaline fibrous material. Immunohistochemistry revealed widespread presence of Type VI collagen in the connective tissue with particularly intense staining in the hyaline material.