Enamel pitting in childhood tuberous sclerosis

Area of Science:

• Pediatric Dentistry
• Medical Genetics
• Dermatology

Background:

• Tuberous sclerosis (TSC) is a serious genetic disorder.
• Early diagnosis of TSC is crucial for effective management.
• Dental enamel abnormalities have been anecdotally linked to TSC.

Purpose of the Study:

• To investigate dental enamel pitting as a diagnostic sign for pediatric tuberous sclerosis (TSC).
• To assess the prevalence of enamel pitting in children with TSC compared to controls.
• To evaluate the utility of enamel pitting detection in diagnosing TSC.

Main Methods:

• Evaluated 13 pediatric patients diagnosed with TSC (ages 2.5-18).
• Utilized dental plaque disclosing stain on dry teeth to detect enamel pits.
• Examined a control group of 39 unrelated patients without TSC.

Main Results:

• Enamel pitting was present in 77% of TSC patients (10/13), versus 13% in controls.
• A statistically significant difference in pitting distribution was observed between TSC patients and controls.
• The number of enamel pits increased with age, with 90% of affected teeth showing 1-2 pits.

Conclusions:

• Dental enamel pitting is a highly prevalent and simple-to-detect sign in pediatric tuberous sclerosis.
• This dental examination can serve as a valuable tool for the early assessment of TSC in children.
• The findings support incorporating dental evaluation into the diagnostic workup for suspected TSC.