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Article Published In Vol. 02, Issue 01 (2022)

Papillion lefèvre Syndrome: Rarest of the Rare; But it is Still There

Pages : 15-17, doi:

Author : Sweta S. Kumar, Vijay Mishra, Sankalp Awasthi, Soni Yadav

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A rare autosomal recessives disorder, Papillon–Lefèvre syndrome (PLS) also known as palmoplantar keratoderma, anhidrosis and periodontitis was first described in 1924 by French Physician Papillon and Lefèver.  The disorder is characterized by diffuse palmoplantar keratoderma and aggressive periodontitis, leading to premature loss of deciduous and permanent dentition at a very young age. Mutations in the cathepsin C gene (CTSC), located at human chromosome 11q14.1-q14.3, are the cause of PLS. A 22-year-old male boy was presented with all the characteristic feature of papillon-lefèvre syndrome. He had complaint of swollen and friable gums and discomfort in chewing the food along with persistent hyperkeratotic, Flaking and scaling of the skin of palms and soles. He also had early shedding of his milk teeth with family history of consanguineous marriage of parents.

Keywords: Autosomal recessives disorder, Papillon–Lefèvre syndrome


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