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Oral findings in 58 adults with tuberous sclerosis complex
Joshua D Sparling1, Chien-Hui Hong, Jaime S Brahim
1National Capital Consortium Residency Program, Walter Reed Army Medical Center, Washington, DC, USA.
Journal of the American Academy of Dermatology
|January 24, 2007
Summary
Oral fibromas and dental enamel pits are common in tuberous sclerosis complex (TSC). Nearly all patients exhibit dental pits, and most have gingival fibromas, highlighting key oral manifestations of TSC.
Area of Science:
- Genetics and rare diseases
- Dermatology
- Oral medicine
Background:
- Gingival fibromas and dental pitting are recognized diagnostic indicators for tuberous sclerosis complex (TSC).
- Tuberous sclerosis complex is a genetic disorder affecting multiple organs.
Purpose of the Study:
- To document and analyze the prevalence of specific oral findings in a cohort of adult patients diagnosed with tuberous sclerosis complex.
Main Methods:
- A case series study was conducted.
- Oral examinations were performed on 58 adult patients with confirmed tuberous sclerosis complex.
Main Results:
- Oral fibromas were identified in 69% of patients, predominantly on the gingiva.
- Multiple dental enamel pits were observed in 97% of the study participants.
- Fibromas also occurred on buccal mucosa, labial mucosa, palate, and tongue.
Conclusions:
- Oral fibromas in TSC primarily affect the gingiva but can appear elsewhere in the oral mucosa.
- Dental enamel pitting is a near-universal finding in adults with TSC.
- Oral manifestations in TSC may resemble those in Cowden syndrome, Birt-Hogg-Dubé syndrome, and MEN1.
