Papillon-Lefèvre Syndrome. All about palms, soles and gums: a brief review

Authors

DOI:

https://doi.org/10.66344/jpad.14.1.2004.773

Abstract

Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder of keratinization
characterized by palmoplantar keratoderma and periodontitis with subsequent loss of
teeth. The exact etiology of the diseases remains to be unraveled. Nonetheless
cathepsin C gene mutations may be involved. The present review focuses on the recent
advances about role of cathepsin C gene in the causation of PLS and other disorders.

References

Hart TC, Shapira L. Papillon-Lefèvre syndrome. Periodontol 1994; 6: 88-100.

Gorlin RJ, Sedano H, Anderson VE. The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth. J Pediatr 1964; 65: 895-908.

Bach JN, Levan NE. Papillon-Lefèvre syndrome. Arch Dermatol 1968; 97: 154-8.

Siragusa M, Romano C, Batticane N et al. A new family with Papillon-Lefèvre syndrome: effectiveness of etretinate treatment. Cutis 2000; 65: 151-5.

Hart TC, Hart PS, Bowden DW et al. Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. J Med Genet 1999; 36: 881-7.

Giansanti JS, Hrabak RP, Waldron CA. Palmar-plantar hyperkeratosis and concomitant periodontal destruction (Papillon-Lefèvre syndrome). Oral Surg Oral Med Oral Pathol 1973; 36: 40-8.

Almuneef M, Al Khenaizan S, Al Ajaji S, Al-Anazi A. Pyogenic liver abscess and Papillon-Lefèvre syndrome: not a rare association. Pediatrics 2003; 111: e85-8.

Reyes VO, King-Ismael D, Abad-Venida L. Papillon-Lefèvre syndrome. Int J Dermatol 1998; 37: 268-70.

Angel TA, Hsu S, Kornbleuth SI et al. Papillon-Lefèvre syndrome: a case report of four affected siblings. J Am Acad Dermatol 2002; 46 (2 Suppl.): S8-10.

Pilger U, Hennies HC, Truschnegg A, Aberer E. Late-onset Papillon-Lefèvre syndrome without alteration of the cathepsin C gene. J Am Acad Dermatol 2003; 49 (5 Suppl.): S240-3.

Rao, NV, Rao, GV, Hoidal, JR. Human dipeptidyl-peptidase I. Gene characterization, localization, and expression. J Biol Chem 1997, 272:10260-5.

Toomes C, James J, Wood AJ et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999; 23: 421-4.

Haim S, Munk J. Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly, and peculiar deformity of the terminal phalanges. Br J Dermatol 1965; 77: 42-54.

Hart TC, Hart PS, Michalec MD et al. Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. J Med Genet 2000; 37: 88-94. Erratum in: J Med Genet 2001; 38:79.

Al-Khenaizan S. Papillon-Lefèvre syndrome: the response to acitretin. Int J Dermatol 2002; 41: 938-41.

Ishikawa I, Umeda M, Laosrisin N. Clinical, bacteriological, and immunological examinations and the treatment process of two Papillon-Lefèvre syndrome patients. J Periodontol 1994; 65: 364-71.

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Published

03.01.2017

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Review Articles

How to Cite

1.
Papillon-Lefèvre Syndrome. All about palms, soles and gums: a brief review. J Pak Assoc Dermatol [Internet]. 2017 Jan. 3 [cited 2026 Jul. 27];14(1):27-30. Available from: https://www.jpad.com.pk/index.php/jpad/article/view/773