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Papillon-Lefevre syndrome in two brothers
1Dr. Rathi's Skin Clinic, 143, Hill Cart Road, Siliguri-734 401, (WB), India.
Indian Journal of Dermatology, Venereology and Leprology
|July 28, 2007
Summary
Papillon-Lefevre syndrome, a rare genetic disorder, causes skin and teeth issues. This report details two brothers with this condition, highlighting their palmo-plantar keratoderma and premature tooth loss.
Area of Science:
- Dermatology
- Genetics
- Pediatrics
Background:
- Papillon-Lefevre syndrome is an autosomal recessive disorder of keratinization.
- Characterized by palmoplantar keratoderma and periodontitis.
Purpose of the Study:
- To report a case of Papillon-Lefevre syndrome in two brothers.
- To describe the clinical manifestations and inheritance pattern.
Main Methods:
- Clinical examination of two affected brothers.
- Review of medical history and family history.
Main Results:
- Both patients presented with palmo-plantar keratoderma.
- Early loss of teeth was observed in both brothers.
- Involvement of knees and elbows was noted, with no parental consanguinity.
Conclusions:
- The reported cases align with the typical presentation of Papillon-Lefevre syndrome.
- Autosomal recessive inheritance is suggested, though not confirmed by consanguinity.
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