Banavali K,Dere S,Banjamin A, Inamdar J

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1 Case Report Banavali K, Dere S, Banjamin A, Inamdar J. J Periodontal Med Clin Prac 2016;03: Affiliation Banavali K,Dere S,Banjamin A, Inamdar J 1) Dr. Kunal Banavali *, M.D.S, Periodontist & Oral Implantologist 2) Dr. Suvidha Dere,M.D.S,Consultant Periodontist 3) Dr. Amit Benjamin, M.D.S.,Professor, Department of Periodontics,Y.M.T. Dental College & Hospital, Kharghar, Navi Mumbai 4) Dr. Juili Inamdar, M.D.S., Consultant Pedodontist Corresponding Author Dr. Kunal Banavali, M.D.S, Periodontist & Oral Implantologist id: kunalperiocraze@gmail.com Abstract Papillon-Lefevre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmar plantar hyperkeratosis and early onset of a severe destructive periodontitis leading to premature loss of both primary and permanent dentitions. Genetic studies have shown that mutations in the major gene locus of chromosome 11q14 with loss of function of Cathepsin C gene are responsible for Papillon-Lefevre syndrome. The exact cause for periodontal destruction in patients with Papillon-Lefevre syndrome is not known but it is thought to be due to defect in neutrophil function, immune suppression and mutations in cathepsin C gene. This report represents a case of a 15 year old boy with classical signs and symptoms of Papillon- Lefevre Syndrome. Key words: Papillon-Lefevre syndrome, Cathepsin C gene, hyperkeratosis, periodontitis Introduction Papillon-Lefevre syndrome (PLS) belongs to a heterogeneous group of skin diseases. It is a rare heritable, autosomal recessive disorder characterized by palmar plantar hyperkeratosis and 1 early loss of primary and permanent teeth. Papillon-Lefevre syndrome was first described in 1924 by Papillon M.M. and Lefevre P. in two siblings. Fifty percent of patients with Papillon- Lefevre syndrome appear to have derived from 2 consanguineous marriages. 161

2 Hart et al, showed that the mutation of Cathepsin C gene are responsible for Papillon-Lefevre syndrome and a region of chromosomes (11q ) is responsible for this. Coming to oral changes, following the eruption of primary teeth gingiva becomes inflamed, followed by rapid destruction of periodontium and premature loss of primary teeth. Gingiva appears normal after exfoliation of primary teeth. The aggressive periodontal destruction repeats after the eruption of permanent teeth and most of the 4 permanent dentition is lost during teenage years. The following article presents a case report of a 15 year old boy with Papillon-Lefevre syndrome. Case report A 15 year old male subject reported with the chief complaint of generalized mobility of teeth and bleeding gums. Subjects' history revealed that primary teeth were lost within short duration after they erupted. Most of the permanent teeth were lost before the age of 14 years. The onset of skin disorder was by the age of 2-3 years, later fissures General and extra-oral examination: The subject had overall normal physical and mental development. Extra-oral examination revealed bilateral yellowish, keratotic, confluent plaques affecting the skin of his palms and soles. His nails and hair were normal. Intra-oral examination: It revealed generalized bleeding on probing and suppuration from first quadrant. Gingiva was reddish pink in color and soft and edematous in consistency. Subject had lost most of his permanent teeth, generalized deep pockets (8-9mm) and grade II mobility with remaining teeth. Plaque and calculus deposits were also present. Radiographic findings: Orthopantomographic examination of case showed severe generalized destruction of alveolar bone. The mandibular molars were almost entirely without bone support. Laboratory investigations: Laboratory investigation was carried out, which included hematological and biochemical assessment. The appeared on palm and soles. Intense itching was noted involving fingers, knees and elbows. results were within normal limits 162

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4 DISCUSSION Several case reports in literature showed phenotypic variation among patients affected by this syndrome. The oral feature of this syndrome is severe periodontitis, which starts at the age of 3-4 years affecting both primary and permanent dentition periodontitis. In case of PLS, the inflammatory infiltrate at the sites of periodontal infection is not under regulatory control. Increase neutrophil influx and retention of inflammatory infiltrate and their proteases play a significant role in continued periodontal destruction. It makes difficult to control and limit periodontitis once lesions are established and disease becomes unresponsive to traditional periodontal treatment. In subjects with Papillon-Lefevre syndrome there is defective Cathepsin C production. The gene for Cathepsin C lies on chromosome 11. Cathepsin C is a lysosomal protease and it is distributed to many tissues. Cathepsin C is involved in the activation of 5 T cells. In 1984, Van Dyke suggested that neutrophils from an individual with Papillon-Lefevre syndrome exhibit decreased receptor affinity for chemotaxins 6 such as formyl peptides. Page RC et al. in suggested defective cementum formation to be the cause for periodontitis in Papillon-Lefevre syndrome. Papillon-Lefevre syndrome is associated with myeloperoxidase deficiency, low integrin expression, defective phagocytosis and 164 chemotaxis. Neutrophils from individuals with Papillon-Lefevre syndrome exhibit decreased 7 affinity for chemotaxins. TREATMENT A multidisciplinary approach involving the Dermatologist, Periodontist, Pedodontist and Pediatrician is important for the overall care of patient with PLS. 8 Ullbro et al. proposed a mode of periodontal therapy for patients with PLS 1) Oral hygiene instructions and prophylaxis every 3rd month Mouth rinses twice daily with 0.2% chlorhexidine gluconate. 2) Teeth with advanced periodontal disease: Extraction -All teeth should be extracted at least 6 months before eruption of the first permanent tooth. -Antibiotics should be given for 2 weeks after extraction. Recommended antibiotics: Amoxicillin + Clavulanic acid mg/kg/d, every 8 hours in divided doses. 3) Teeth with moderate periodontal disease -Scaling -Prophylaxis once every month -Antibiotic treatment for 4 weeks: Amoxicillin (20-50 mg/kg/d) + Metronidazole (15-35 mg/kg/d) in divided doses every 8 h. In this case;

5 Conventional periodontal treatment in the form of scaling and root planning was given for 4 weeks amoxicillin (20-50 mg/kg/d) + metronidazole (15-35 mg/kg/d) in divided doses every 8 hours as an adjunctive with conventional treatment Teeth with hopeless prognosis were extracted In teeth having deep periodon 0.2% chlorhexidine gluconate mouthwash and oral hygiene instruction was employed to control disease activity Systemic antibiotic treatment tal pockets, periodontal flap surgery was done To restore masticatory function, partial dentures were inserted In recent years, dental implant offers not only considerable better stability and retention of prosthesis, but also improved comfort, masticatory 9 efficiency and esthetics. The skin manifestations of PLS are usually treated with emollients. Salicylic acid and urea may be added to enhance their effect. CONCLUSION PLS is a rare autosomal recessive disorder. The conflicting findings of PLS management could be related to the severity of the condition, the age at which treatment was instituted, timing and duration of antibiotic therapy and home care. The complex nature of PLS means that successful treatment of the periodontal component of this syndrome remains challenging. It is hoped that with identification of the gene defect, better treatment modalities can be developed. In cases where patient reports late or not r e s p o n d i n g t o p e r i o d o n t a l t r e a t m e n t, osseointegrated implants are an option for the future and can have a great impact psychosocially by restoring esthetics as well as function. REFERENCES 1. Hattab FN, Rawashdeh MA, Yassin OM, al- Momani AS, al-ubosi MM. Papillon-lefevre syndrome: A review of literature and report of 4 cases. J Periodontol 1995; 66: Hart TC, Shapira L. Papillon-Lefèvre syndrome. Periodontol ; 6: 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: 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: Hart PS, Zhang Y, Firatli E, Uygur C, Lotfazar M, Michalec MD, et al. Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients. J Med Genet 2000; 37: Van Dyke TE, Taubman MA, Ebersole JL, Haffajee AD, Socransky SS, Smith DJ, et al. The 165

6 Papillon Lefèvre syndrome: Neutrophil dysfunction with severe periodontal disease. Clin Immunol Immunopathol 1984; 31: Page RC, Baab DA. A new look at the etiology and pathogenesis of early-onset periodontitis. Cementopathia revisited. J Periodontal 1985; Papillon-Lefèvre syndrome. J Am Acad Dermatol 2003; 48: Ullbro C, Crossner CG, Lundgren T, Stålblad PA, Renvert S. Osseointegrated implants in a patient with Papillon-Lefèvre syndrome. A 4 1/2-year follow up. J Clin Periodontol 2000; 27: : Ullbro C, Crossner CG, Nederfors T, Alfadley A, Thestrup-Pedersen K. Dermatologic and oral findings in a cohort of 47 patients with Competing interest / Conflict of interest The author(s) have no competing interests for financial support, publication of this research, patents and royalties through this collaborative research. All authors were equally involved in discussed research work. There is no financial conflict with the subject matter discussed in the manuscript. Source of support: NIL Copyright 2014 JPMCP. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. 166