Palmoplantar keratoderma and edentulous status: two isolated expressions of Papillon-Lefèvre syndrome

Seema Sharma, Vipin Sharma, Milap Sharma, Sanjeev Chaudhary


Papillon-Lefèvre Syndrome (PLS) is a rare, autosomal recessive disease comprising palmoplantar keratoderma and rapidly progressive and devastating periodontitis, affecting the primary as well as the permanent dentition, attributed to a point mutation of the Cathepsin C gene (CTSC). One of our patients had early onset of severe skin lesions with recurrent pyogenic infections while his elder sibling was edentulous without any other pyogenic infections. This paper describes the clinical variants of PLS in two siblings and briefly reviews the relevant available literature.


Keratoderma, Onychodystrophy, Papillon-Lefèvre syndrome

Full Text:



Griffiths WAD. Disorders of keratinization. In: Griffiths WAD, Judge MR, Leigh IM, Champion R H, Burton JL, Burns DA, Breathnach SM eds. Textbook of Dermatology. 6th ed. Oxford: Blackwell Scientific Publications; 1998: 1569-1571.

Radhika Muppa, B Prameela, Mahesh Duddu, and Arthi Dandempally. Papillon-Lefevre syndrome: a combined approach from the dermatologist and dentist - a clinical presentation. Indian J Dermatol. 2011;56(6):740-3.

Canger EM, Celenk P, Devrim I, Yenisey M, Gunhan O. Intraoral findings of Papillon-LeFevre syndrome. J Dent Children. 2008;75(1):99-103.

Keskin-Yildirim Z, Simşek-Derelioğlu S, Kantarci M, Yilmaz Y, Büyükavci M. Papillon-Lefèvre syndrome: report of three cases in the same family. Turk J Pediatr. 2012;54(2):171-6.

Papillon M, Lefèvre P. Dens, Cas de Keratodermie, Palmaire et Plantaire, Symetrique Familale (Maladie de Meleda), Chez le Frère , et al. Soeur: co exdistence dans les deux cas d’alterations dentaires groups. Bull Soc Fr Dermatol Syph.1924;31:82-7.

Kanthimathinathan HK, Browne F, Ramirez R, McKaig S, Debelle G, Martin J, Chapple IL, Kay A, Moss C. Multiple cerebral abscesses in Papillon-Lefèvre syndrome. Childs Nerv Syst. 2013 Aug;29(8):1227-9.

Patel S, Davidson LE. Papillon-Lefevre syndrome: a report of two cases. Int J Pediatr Dent. 2004;14:288-94.

Thakker N. Genetic analysis of Papillon-Lefevre syndrome. Oral Dis. 2000;6:263.

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

Rathod VJ, Joshi NV. Papillon-Lefèvre syndrome: a report of two cases. J Indian Soc Periodontol. 2010;14(4):275-8.

Patel S, Davidson LE. Papillon-Lefèvre syndrome: a report of two cases. Int J Pediatr Dent. 2004;14(4):288-94.

Nagaveni NB, Suma R, Shashikiran ND, Subba Reddy VV. Papillon-Lefevre syndrome: report of two cases in the same family. J Indian Soc Pedodont Prev Dent. 2008;26(2):78-81.

Almuneef M, Al Khenaizan S, Al Ajaji S, Al-Anazi A. Pyogenic liver abscess and Papillon-Lefèvre syndrome: not a rare association. Pediatr. 2003;111(1):e85-8.

Al-Khenaizan S. Papillon-Lefèvre syndrome: the response to acitretin. Int J Dermatol. 2002;(12):938-41.