Papillon - lefevre syndrome with mental retardation
V Gandhi1, A Singal, S Mohanty
1Department of Dermatology and STD, UCMS and GTB Hospital, Delhi, India.
Indian Journal of Dermatology, Venereology and Leprology
|October 6, 2010
Summary
This study details a 9-year-old boy with Papillon-Lefevre syndrome, characterized by palmoplantar keratoderma, enamel hypoplasia, and intellectual disability. Histopathology confirmed the clinical diagnosis, highlighting this rare genetic disorder.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Papillon-Lefevre syndrome is a rare autosomal recessive disorder.
- Characterized by palmoplantar keratoderma and periodontitis.
- Associated with mutations in the CTSC gene.
Purpose of the Study:
- To present a case of Papillon-Lefevre syndrome in a child.
- To highlight the key clinical and histopathological features.
- To emphasize the importance of early diagnosis.
Main Methods:
- Clinical examination of a 9-year-old boy.
- Histopathological analysis of affected tissues.
- Review of relevant literature.
Main Results:
- The patient presented with severe keratoderma of palms and soles.
- Significant enamel hypoplasia and mental retardation were observed.
- Histopathology supported the clinical diagnosis of Papillon-Lefevre syndrome.
Conclusions:
- Papillon-Lefevre syndrome requires a multidisciplinary approach for management.
- Early diagnosis and intervention can improve patient outcomes.
- Genetic counseling is crucial for affected families.
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