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Corneal involvement in Papillon-Lefèvre syndrome
Pinar Saatci1, A Ozgün Arli, Korcan Demir
1Department of Orthodontics, Dental Hospital, Ministry of Health, Izmir, Turkey.
Journal of Pediatric Ophthalmology and Strabismus
|June 10, 2006
Summary
Papillon-Lefèvre syndrome patients often present with dental and skin issues. This case highlights the need for regular ophthalmologic exams due to corneal leukoma, a rare eye finding.
Area of Science:
- Ophthalmology
- Genetics
- Dermatology
Background:
- Papillon-Lefèvre syndrome is a rare autosomal recessive disorder characterized by severe periodontitis, palmoplantar hyperkeratosis, and increased susceptibility to infections.
- The syndrome's classic manifestations primarily involve dental and dermatologic systems.
Observation:
- A 7-year-old boy presented with typical dental and dermatologic features of Papillon-Lefèvre syndrome.
- Additionally, the patient exhibited bilateral, symmetrical, hypertrophic corneal leukomas, indicating a significant ocular finding.
Findings:
- The case report details the co-occurrence of classic Papillon-Lefèvre syndrome symptoms with corneal leukomas.
- This observation expands the known clinical spectrum of the syndrome.
Implications:
- Ophthalmologic examinations should be considered a crucial part of the routine care for individuals diagnosed with Papillon-Lefèvre syndrome.
- Early detection of ocular manifestations like corneal leukomas can potentially aid in timely management and prevent further vision impairment.
