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Updated: Apr 19, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Partial expression of the Papillon-Lefevre syndrome
Muhammad Shanavas1, Laxmikanth Chatra2, Prashanth Shenai2
1Department of Oral Medicine and Radiology, Mahe Institute of Dental Sciences, Mahe, Pondicherry, India.
Abstract:
Papillon-Lefevre Syndrome (PLS) is a rare autosomal recessive genodermatosis characterized by palmar-plantar hyperkeratosis, and destructive periodontitis. It is transmitted with an estimated frequency of one to four per million individuals. The two hallmarks of the syndrome, dermatological lesions and destructive periodontitis, are known to occur as an independent diseases. We present a unique case of Papillon-Lefevre syndrome in a 28 years old woman with its pathognomonic dermatological features without oral features.
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