Papillon-Lefevre syndrome

Definition:

Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder caused by deficiency of cathepsin C, a lysosomal cysteine proteinase that functions by removing dipeptides from the amino termini of its substrates. The disease is characterized by palmoplantar keratoderma and juvenile periodontitis.

References:

[1]. E F Neufeld, et al. Lysosomal storage diseases. Annu Rev Biochem. 1991;60:257-80. [Content Brief]

[2]. Koji Nakajima, et al. Papillon-Lefèvre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients. Dermatology. 2008;217(1):58-62. [Content Brief]

[3]. Maha Almuneef, et al. Pyogenic liver abscess and Papillon-Lefèvre syndrome: not a rare association. Pediatrics. 2003 Jan;111(1):e85-8. [Content Brief]

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