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Oral manifestations of infantile systemic hyalinosis
H Devlin1, P Sloan, N S Thakkar
1Turner Dental School, University of Manchester, England.
Insights
Infantile systemic hyalinosis presents with severe oral manifestations, including gingival overgrowth and root abnormalities. This rare, fatal childhood disease involves hyaline material deposition, impacting connective tissues and collagen.
Area of Science:
- Pediatric Pathology
- Oral Medicine
- Genetics
Background:
- Infantile systemic hyalinosis (ISH) is a rare, fatal genetic disorder.
- It is characterized by widespread hyaline material deposition in tissues, leading to severe systemic symptoms.
- Onset is typically in infancy, with a poor prognosis.
Abstract:
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.