Case report: Infantile systemic hyalinosis: a dental perspective

Area of Science:

• Genetics
• Pediatrics
• Dermatology

Background:

• Infantile systemic hyalinosis (ISH) is a rare genetic disorder characterized by hyaline deposition in various tissues.
• Key manifestations include painful joint contractures, skin lesions, malnutrition, and significant gingival hypertrophy.

Observation:

• A two-year-old boy presented with typical ISH phenotype, including flattened occiput, limited joint mobility, and severe gingival hypertrophy.
• The gingival hypertrophy extensively covered the teeth, necessitating surgical intervention.

Findings:

• Gingivectomy under general anesthesia was performed to address the severe gingival hypertrophy.
• Post-surgery, the patient exhibited no improvement in oral hygiene, despite the reduction in gingival tissue.

Implications:

• This case highlights gingival hypertrophy as a significant clinical feature of ISH requiring surgical management.
• The lack of oral hygiene improvement post-surgery suggests the need for further research into comprehensive management strategies for ISH-related oral complications.