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Papillon-Lefevre syndrome. A report of six cases in one family
International Journal of Dermatology
|December 1, 1986
Insights
Papillon-Lefevre syndrome, a rare genetic disorder, was identified in six Saudi children from one family. The study details the onset of palmoplantar keratosis and severe periodontitis leading to tooth loss.
Area of Science:
- Genetics
- Dermatology
- Pediatric Dentistry
Background:
- Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder.
- It is characterized by palmoplantar hyperkeratosis and severe periodontitis.
- Genetic factors and consanguinity play a role in its inheritance.
Observation:
- Six Saudi children from a single family presented with PLS.
- Parents were unaffected, but consanguinity was noted.
- Palmoplantar keratosis began around 1.5 years of age.
Findings:
- All affected children exhibited essential features of Papillon-Lefevre syndrome.
- Juvenile periodontitis led to the loss of deciduous teeth.
- The clinical presentation was consistent with established PLS criteria.
Implications:
- This case series highlights the importance of recognizing PLS in familial clusters.
- Early diagnosis and management of periodontitis are crucial for preserving dentition.
- Understanding the genetic basis in this Saudi family may offer insights into PLS pathogenesis.
Abstract:
Papillon-Lefevre syndrome in six Saudi children in the same family is described. The parents were unaffected, and parental consanguinity was present. Palmoplantar keratosis started at the age of 1 1/2 years. The loss of deciduous teeth was a consequence of juvenile periodontitis. All essential features of the syndrome were present in this series.