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CASE REPORT
Year : 2009  |  Volume : 21  |  Issue : 2  |  Page : 89-91 Table of Contents   

Papillon-Lefevre syndrome: A case report with review of literature


Department of Oral Medicine and Radiology, M.G.V'S K.B.H Dental College, Nashik, India

Date of Web Publication1-Dec-2009

Correspondence Address:
Varun Gul Bhatia
102, Department of Oral Medicine and Radiology, M.G.V'S K.B.H Dental College, Nashik
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-1363.57892

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   Abstract 

Papillon-Lefèvre syndrome is an extremely rare genodermatosis inherited as an autosomal recessive trait, affecting children between the ages of 1-4 years. It has a prevalence of 1-4 cases per million persons. Males and females are equally affected and there is no racial predominance. The disorder is characterized by diffuse palmoplantar keratoderma and premature loss of both deciduous and permanent teeth. Often, there is associated hyperhidrosis of the palms and soles resulting in a foul-smelling odor. Well-demarcated psoriasiform plaques occur on the elbows and knees. The second major feature of PLS is severe periodontitis, which starts at age 3 or 4 years. We report a case of a 14-year-old patient with Papillon-Lefevre syndrome.

Keywords: Cathepsin-c gene, palmoplantar keratoderma, periodontitis


How to cite this article:
Gadgil R, Bhoosreddy A, Bhatia VG. Papillon-Lefevre syndrome: A case report with review of literature. J Indian Acad Oral Med Radiol 2009;21:89-91

How to cite this URL:
Gadgil R, Bhoosreddy A, Bhatia VG. Papillon-Lefevre syndrome: A case report with review of literature. J Indian Acad Oral Med Radiol [serial online] 2009 [cited 2019 Apr 20];21:89-91. Available from: http://www.jiaomr.in/text.asp?2009/21/2/89/57892


   Introduction Top


Papillon-Lefèvre syndrome, first described by two French physicians Papillon and Lefèvre in 1924, [1] is an extremely rare genodermatosis inherited as an autosomal recessive trait, affecting children between the ages of 1-4 years. [2],[3] It is characterized by severe destruction of alveolar bone involving both the deciduous and permanent dentitions. Inflammatory gingival enlargement, gingival ulceration and formation of deep pockets are frequently present. In other instances there is no inflammatory element and only the permanent dentition may be affected. The characteristic skin lesions associated with the changes consist of keratotic lesions of the palmar and plantar surfaces. [4] The palmoplantar keratoderma typically has its onset between the ages of 1 and 4 years. [5] The sharply demarcated erythematous keratotic plaques may occur focally, but usually involve the entire surface of the palms and soles, sometimes extending onto the dorsal surfaces of the hands and feet. Well-demarcated psoriasiform plaques occur on the elbows and knees. [6] Often, there is associated hyperhidrosis of the palms and soles resulting in a foul-smelling odor. [3] The findings may worsen in winter and be associated with painful fissures. Another feature of PLS may be radiographic evidence of intracranial calcification. [7]


   Case Report Top


A patient, male, 14 years of age, Muslim by religion living in Malegaon had come to the department of oral medicine and radiology of K.B.H. Dental College, Nashik with the chief complaint of edentulous mandible and partially edentulous maxilla since the age of 4 years [Figure 1]. The patient was apparently fine up to age of 3-4 years, but then noticed a fall in decidous dentition. According to the history, permanent teeth had never erupted, except for four molars [Figure 2]. He is also undergoing treatment for skin lesions. Family history reveals that the patient's father's sister is also suffering from the same condition and is wearing dentures since the age of 25 years. He also gives history of the parents' consanguinity (marriage within same family). The patient was conscious, well versed with time, place and person. Gait was normal, build was thin, and height was 5'3" (approximately). Nails were normal, cyanosis was absent, Icterus was absent. On skin examination hyperkeratotic lesions were seen on palms [Figure 3], which extend up to the dorsal surface and on the plantar surface of foot [Figure 4]. Only four teeth, that is 16, 26, 36, 46, were present.

The report was compatible with Papillon-Lefevre syndrome.


   Discussion Top


Papillon-Lefèvre syndrome (PLS) is an autosomal recessively inherited member of the large group of palmoplantar ectodermal dysplasias, characterized by palmoplantar hyperkeratosis and severe periodontitis. The prevalence of PLS is reported to be 1 to 4 per million population. [8] Males and females are equally affected and there is no racial predominance. [1]

The major feature of PLS is severe periodontitis, which starts at age 3 or 4 years. [6] The development and eruption of the deciduous teeth proceeds normally, but their eruption is associated with gingival inflammation and subsequent rapid destruction of the periodontium. The resulting periodontitis characteristically is unresponsive to traditional periodontal treatment modalities and the primary dentition is usually exfoliated prematurely by age 4 years. After exfoliation, the inflammation subsides and the gingiva appears healthy. However, with the eruption of the permanent dentition, the process of gingivitis and periodontitis is usually repeated and there is subsequent premature exfoliation of the permanent teeth, although the third molars are sometimes spared. [1] The degree of dermatologic involvement may not be related to the level of periodontal infection. [9] Nail changes are apparent in advanced cases as in this case, manifested by transverse grooving and fissuring. [10] In addition to the skin and oral findings, patients may have decreased neutrophil, lymphocyte, or monocyte functions and an increased susceptibility to bacteria, associated with recurrent pyogenic infections of the skin. Pyogenic liver abscess is increasingly recognized as a complication of PLS associated with impairment of the immune system. [1]

The cause of PLS is not well understood, but recently, two research groups have reported that loss-of-function mutations affecting both the alleles of the cathepsin-C gene, located on chromosome 11q14.1-q14.3, were associated with PLS. [11],[12] The cathepsin-C gene encodes a cysteine-lysosomal protease also known as dipeptidyl-peptidase I, which functions to remove dipeptides from the amino terminus of the protein substrate. It also has endopeptidase activity. The cathepsin-C gene is expressed in epithelial regions commonly affected by PLS such as palms, soles, knees, and keratinized oral gingiva. It is also expressed at high levels in various immune cells including polymorphonuclear leukocytes, macrophages, and their precursors. Several mutations have been reported in the cathepsin-C gene in individuals from diverse ethnic groups. [13] The exact cause of the periodontal disease in PLS has not been found but it has been attributed to decreased neutrophil phagocytosis, bacterial infection and impaired reactivity to T- and B-cell mitogens. The exact mechanism of the increased susceptibility to infections is also unknown, but some investigators have demonstrated a dysfunction in neutrophil motility and bactericidal function. [1],[14] It would be pertinent to mention that there are reports of at least six cases of late-onset variation of PLS without underlying cathepsin-C gene mutations. [15]

A multidisciplinary approach is important for the care of patients with PLS. The skin manifestations of PPK are usually treated with emollients. [6] Salicylic acid and urea may be added to enhance their effect. Oral retinoids including acitretin, etretinate, and isotretinoin are the mainstay of the treatment of both the keratoderma and periodontitis associated with PLS. Treatment may be more beneficial if it is started during the eruption and maintained during the development of the permanent teeth. [16] The periodontitis in PLS is usually difficult to control. Effective treatment for the periodontitis includes extraction of the primary teeth combined with oral antibiotics and professional teeth cleaning. It is reported that etretinate and acitretin modulate the course of periodontitis and preserve the teeth. A course of antibiotics should be tried to control the active periodontitis in an effort to preserve the teeth and to prevent bacteremia and subsequently pyogenic liver abscess. The risk of pyogenic liver abscess should be kept in mind in evaluating these patients when they present with fever of unknown origin. [1]

In our case report the patient presented with clinical features of loss of deciduous and permanent dentition at a very early age, palmoplantar keratosis and history of parents' consanguinity. These features correlate very well with Papillon-Lefevre syndrome.

 
   References Top

1.Janjua SA, Khachemoune A. Papillon-Lefèvre syndrome: Case report and review of the literature. Dermatol Online J 2004;10:13.  Back to cited text no. 1      
2.Hart TC, Shapira L. Papillon-Lefèvre syndrome. Periodontol 2000 1994;6:88-100.  Back to cited text no. 2      
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.  Back to cited text no. 3      
4.Shafer, Hine, Levy. A textbook of oral pathology. 4 th ed. P. 797-8.  Back to cited text no. 4      
5.Bach JN, Levan NE. Papillon-Lefèvre syndrome. Arch Dermatol 1968;97:154-8.  Back to cited text no. 5      
6.Siragusa M, Romano C, Batticane N, Batolo D, Schepis C. A new family with Papillon-Lefèvre syndrome: e0 ffectiveness of etretinate treatment. Cutis 2000;65:151-5.  Back to cited text no. 6      
7.Reyes VO, King-Ismael D, Abad-Venida L. Papillon-Lefèvre syndrome. Int J Dermatol 1998;37:268-70.  Back to cited text no. 7      
8.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:S240-3.  Back to cited text no. 8      
9.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.  Back to cited text no. 9      
10.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.  Back to cited text no. 10      
11.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;36:881-7.  Back to cited text no. 11      
12.Toomes C, James J, Wood AJ, Wu CL, McCormick D, Lench N, et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999;23:421-4.  Back to cited text no. 12      
13.Angel TA, Hsu S, Kornbleuth SI, Kornbleuth J, Kramer EM. Papillon-Lefèvre syndrome: a case report of four affected siblings. J Am Acad Dermatol 2002;46:S8-10.  Back to cited text no. 13      
14.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;37:88-94.  Back to cited text no. 14      
15.Pilger U, Hennies HC, Truschnegg A, Aberer E. Late-onset Papillon-Lefevre syndrome without alteration of the cathepsin C gene. J Am Acad Dermatol 2003;49:S240-3.  Back to cited text no. 15      
16.Blanchet-Bardon C, Nazzaro V, Rognin C, Geiger JM, Puissant A. Acitretin in the treatment of severe disorders of keratinization. Results of an open study. J Am Acad Dermatol 1991;24:982-6.  Back to cited text no. 16      


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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