Papillon-lefevre syndrome

Objective & Hypothesis:Papillon-Lefevre Syndrome is an extremely rare genetic disorder that typically effects infants of approximately one to 5 years of age.

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Key Findings & Data:In the general population, the disorder occurs in approximately one to 4 individuals per 1.000.000.

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Conclusion & Impact:Here we present a Papillon-Lefevre Syndrome case, which is rarely seen, with a review of the literature.

🔬Design:Review & Systematic Survey

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Papillon-Lefevre Syndrome is an extremely rare genetic disorder that typically effects infants of approximately one to 5 years of age. Papillon-Lefevre Syndrome is characterized by the development of palmar-plantar hyperkeratosis and early loss of the primary (deciduous) and permanent teeth due to rapidly progressive periodontopathy. The primary (deciduous) teeth frequently become loose and fall out by about five years of age. In the general population, the disorder occurs in approximately one to 4 individuals per 1.000.000. Here we present a Papillon-Lefevre Syndrome case, which is rarely seen, with a review of the literature.

Özet

Papillon-Lefevre Sendromu, tipik olarak 1-5 yaş civarında ortaya çıkan son derece nadir genetik bir bozukluktur. Papillon-Lefevre Sendromu, palmoplantar hiperkeratoz ile başlayan ve hızla gelişen periodontopatiye bağlı olarak süt dişleri ve kalıcı dişlerin erken kaybıyla karakterizedir. Sütdişleri serbest hale gelir ve bunlar 5 yaş civarında kaybedilir. Genel populasyonda bozukluğun görülme sıklığı, yaklaşık milyonda 1-4 civarındadır. Nadir görülmesi nedeniyle Papillon-Lefevre Sendrom’lu bir olgu ilgili literatür bilgileri ile birlikte sunuyoruz

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Cite This Article

ATABEK, M. E., PİRGON, Ö., SERT, A. (2022). Papillon-lefevre syndrome. Erciyes Tıp Dergisi, Cilt: 29 - Sayı: 6, 478–481. https://ajindex.com/articles/502695

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References (8)

Papillon MN and Lefevre B. Two cases of familial symmetric palmoplanter keratosis (Maleda's disease) in a brother and his sister. Alterations in both cases (French) Bull Soc Francaise Dermatologie Syphiligraphie 1924; 31:81-84
Gorlin RJ, Sedano H, Anderson VE. The syndrome of palmarplantar hyperkeratosis and premature periodontal destruction of the teeth. J Pediatr 1964; 65:895-908
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; 23:421-424. 4 Bach JN, Levan NE. Papillon-Lefevre syndrome. Arch Dermatol 1968; 97:154-158. 5.Itin PH. Classification of autosomal dominant palmoplantar keratoderma: past-present-future. Dermatology 1992; 185:163-165
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
Hart PS, Zhang Y, Firatli E, et al. Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients. J Med Genet 2000; 37:927–932
Van Dyke TE, Taubman MA, Ebersole JL, et al. The Papillon-Lefevre Syndrome: Neutrophil dysfunction with severe periodontal disease. Clin Immunol Immunopathol. 1984; 31:419–429. 9.Eickholz P, Kugel B, Pohl S, Naher H, Staehle HJ. Combined mechanical and antibiotic periodontal therapy in a case of Papillon-Lefevre syndrome. J Periodontol 2001; 72:542-549
Nazzaro V, Blanchet-Bardon C, Mimoz C, Revuz J, Puissant A. Papillon-Lefevre syndrome. Ultrastructural study and successful treatment with acitretin. Arch Dermatol. 1988; 124:533-539
Bergman R, Friedman-Birnbaum R. Papillon-Lefevre syndrome: a study of the long-term clinical course of recurrent pyogenic infections and the effects of etretinate treatment. Br J Dermatol. 1988; 119:731-736.