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Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome
D L Domingo1, A F Freeman, J Davis
1National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA. ddomingo@mail.nih.gov
Oral Diseases
|January 5, 2008
Summary
Oral mucosal and gingival alterations are common in Hyperimmunoglobulin-E syndrome (HIES), a primary immunodeficiency. These findings, including palatal and tongue lesions, may aid in diagnosing HIES.
Area of Science:
- Immunology
- Genetics
- Oral Medicine
Background:
- Hyperimmunoglobulin-E syndrome (HIES) is a primary immunodeficiency with diverse non-immunologic manifestations.
- The exact genetic and immunologic basis of HIES remains unclear.
- Characteristic facial and skeletal findings are known, but intraoral soft tissue changes are less understood.
Purpose of the Study:
- To investigate and characterize the intraoral soft tissue findings in patients diagnosed with Hyperimmunoglobulin-E syndrome.
- To determine the prevalence of specific oral lesions in HIES patients.
- To assess the diagnostic utility of intraoral findings in HIES.
Main Methods:
- Intraoral and radiographic examinations were conducted on 60 HIES patients (ages 4-54).
- Chronological dental development was also assessed.
- Data on oral lesions were collected and analyzed.
Main Results:
- Lesions were observed in the hard palate (55%) and dorsal tongue (60%), including keratosis and fibrotic bridges.
- Tongue lesions presented as fissures and midline clefts.
- Oral lesions were significantly more prevalent (76.7%) than characteristic facial traits, aiding in HIES diagnosis.
Conclusions:
- A majority of HIES patients exhibit alterations in oral mucosa and gingiva.
- These novel intraoral findings represent a potentially valuable diagnostic marker for HIES.
- Further research into the pathogenesis of these oral manifestations is warranted.
