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Atypical familial Papillon-Lefèvre syndrome
H S Inalöz1, M Harman, S Akdeniz
1Department of Dermatology, University of Wales College of Medicine, Cardiff, UK. serhatinaloz@hotmail.com
Insights
Papillon-Lefèvre syndrome is a rare genetic disorder causing severe gum disease and skin issues. This report details two unique familial cases with atypical presentations, highlighting disease variability.
Area of Science:
- Genetics
- Dermatology
- Periodontology
Background:
- Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder.
- Characterized by palmoplantar hyperkeratosis and aggressive periodontitis leading to premature tooth loss.
- Consanguinity is often a prerequisite.
Observation:
- Presents two unusual cases of familial Papillon-Lefèvre syndrome.
- Case 1: Late onset of mild skin lesions with severe periodontal disease.
- Case 2: Severe skin lesions with relatively mild periodontal disease.
Findings:
- Highlights the variability in clinical presentation of Papillon-Lefèvre syndrome.
- Demonstrates atypical features beyond the classic phenotype.
- Suggests genetic or environmental factors influencing disease expression.
Implications:
- Broadens the understanding of Papillon-Lefèvre syndrome spectrum.
- Aids in earlier diagnosis and management of atypical cases.
- Informs genetic counseling for affected families.
Abstract:
The Papillon-Lefèvre syndrome is a rare autosomal recessive disorder. Consanguinity seems a notable prerequisite. Papillon-Lefèvre syndrome manifests in the first 6 months of life with rapidly progressive periodontitis and severe alveolar bone destruction leading to early loss of both the deciduous and permanent teeth in association with palmo-plantar hyperkeratosis. We present two unusual cases of familial Papillon-Lefèvre syndrome, one of whom has only late onset of mild skin lesions and the other has severe skin lesions and relatively mild periodontal disease. A number of other cases recently described have also had atypical features.