Papillon-Lefèvre syndrome: A case report of two siblings and review of the literature

Authors

  • Peerzada Sajad Postgraduate department of Dermatology STD and Leprosy, GMC, Srinagar
  • Iffat Hassan Postgraduate department of Dermatology STD and Leprosy, GMC, Srinagar
  • Syed Imtiyaz Postgraduate department of Pathology, GMC, Srinagar.

DOI:

https://doi.org/10.66344/jpad.v24i1.182

Keywords:

periodontitis, palmoplantar keratoderma, Papillon-Lefèvre syndrome

Abstract

Papillon-Lefèvre syndrome is a rare autosomal recessive genodermatosis which is characterised by periodontitis, palmoplantar keratoderma and predisposition to pyogenic infections and occurs due to cathepsin C gene mutation (located on chromosome11).The loss of primary teeth usually occurs by the age of 4 years and secondary teeth by second decade. The disorder is associated with significant cosmetic and functional disability.

References

1. Haneke E. The Papillon-Lefèvre syndrome: Keratosis palmoplantaris with periodontopathy. Hum Genet. 1979;51:1-35.

2. Hart TC, Shapira L. Papillon-Lefèvre syndrome. Periodontol. 2000. 1994;6:88-100.

3. 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.

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

5. Ullbro C, Crossner CG, Nederfors T et al. Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome. J Am Acad Dermatol. 2003;48:345-51.

6. Levoy, Wollnier S, Hachem-Zadeh S. Immunological study of patients with Papillon-Lefèvre syndrome. Clin Exp Immunol. 1980;40:407-10.

7. Djawezi D. Deficient phagocytic function in Papillon-Lefèvre syndrome. Clin Exp Immunol. 1980;40:407-10.

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.

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Published

29.11.2016

Issue

Section

Case Reports

How to Cite

1.
Papillon-Lefèvre syndrome: A case report of two siblings and review of the literature. J Pak Assoc Dermatol [Internet]. 2016 Nov. 29 [cited 2026 Jul. 27];24(1):93-5. Available from: https://www.jpad.com.pk/index.php/jpad/article/view/182