Spectrum of Papillon–Lefevre syndrome
Keywords:
Papillon–Lefevre syndrome, Palmo-plantar Keratoderma, PeriodontitisAbstract
Papillon–Lefevre syndrome is an extremely rare autosomal recessive disorder characterized by severe periodontal disease with hyperkeratosis and fissuring of the palms and soles. Periodontitis is severe and destructive affecting both deciduous and permanent dentitions associated with palmo-plantar hyperkeratosis. These manifestations usually appear in childhood between 1 and 4 years of age and deciduous teeth exfoliate within or at the age of six. Permanent teeth erupt normally but soon get affected by periodontal disease. Individual becomes edentulous within teenage. Hyperkeratotic lesions extend to knees and elbows. Some cases have shown inconsistent manifestations such as calcification of falx cerebri and choroid plexus, calcification of the dura, attachment of the tentorium, thumb nail dystrophy and hyperhidrosis.
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References
Papillon MM, Lefevre P. Deux cas de keratodermie palmaire et plantaire symmetrique famiale (maladie de meleda) chez le frere et la soeur: coexistence dans les deux cas d’alterations dentaires graves. Bull Soc Derma Symp. 1924;31:82-7.
Hart TC, Shapira L. Papillon-Lefèvre syndrome. Periodontol 2000. 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.
Cury VF, Costa JE, Gomez RS, Boson WL, Loures CG, De ML. A novel mutation of the cathepsin C gene in Papillon-Lefèvre syndrome. J Periodontol. 2002;73(3):307-12.
Landow RK, Cheung H, Bauer M. Papillon-Lefèvre syndrome. Int J Dermatol. 1983;22(3):177-9.
Bach JN, Levan NE. Papillon-Lefèvre syndrome. Arch Dermatol. 1968;97(2):154-8.
School of Biological Sciences, University of Manchester, Stopford Building, University of Manchester, Manchester, UK.
Siragusa M, Romano C, Batticane N, Batolo D, Schepis C. A new family with Papillon-Lefèvre syndrome: effectiveness of etretinate treatment. Cutis. 2000;65(3):151-5.
Hart TC, Hart PS, Bowden DW, Michalec MD, Callison SA, Walker SJ, et al. Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. J Med Genet. 1999;36(12):881-7.
Ullbro C, Crossner CG, Nederfors T, Alfadley A, Thestrup-Pedersen K. Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome. J Am Acad Dermatol. 2003;48:345-51.
Giansanti JS, Hrabak RP, Waldron CA. Palmar-plantar hyperkeratosis and concomitant periodontal destruction (papillon-lefèvre syndrome). Oral Surg Oral Med Oral Pathol. 1973;36(1):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(1):e85-8.
Hart TC, Bowden DW, Ghaffar KA, Wang W, Cutler CW, Cebeci I, et al. Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21. Am J Med Genet. 1998;79(2):134-9.
Hart TC, Hart PS, Michalec MD, Zhang Y, Firatli E, Van Dyke TE, et al. Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. J Med Genet. 2000;37(2):88-94.
Angel TA, Hsu S, Kornbleuth SI, Kramer EM. Papillon-Lefevre syndrome: case report of four affected siblings. J Am Acad Dermatol 2002;46 2 Suppl Case Reports: S8-10.
