REFERENCES
1. Papillon MM, Lefevre P. Deux cas de keratoderma palmaire et plantaire symmetrique familiale (maladie de Meleda) chez le frere et la soeur: coexistence dans les deux cas d’alterations dentaires graves. Bull Soc Fr Dermatol Syph 1924;31:82-7.
2. 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.
3. Haneke E. The Papillon-Lefèvre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature. Hum Genet 1979;51:1-35.
4. Hattab FN, Rawashdeh MA, Yassin OM, al-Momani AS, al-Ubosi MM. Papillon-Lefèvre syndrome: a review of the literature and report of 4 cases. J Periodontol 1995;66:413-20.
6. Hattab FN, Amin WM. Papillon-Lefèvre syndrome with albinism: a review of the literature and report of 2 brothers. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2005;100:709-16.
7. AIBarrak ZM, Alqarni AS, Chalisserry EP, Anil S. Papillon-Lefèvre syndrome: a series of five cases among siblings. J Med Case Rep 2016;10:260.
8. Teebi AS. Genetic disorders among Arab populations. Heidelberg: Springer-Verlag Berlin; 2010.
9. Rathod VJ, Joshi NV. Papillon-Lefevre syndrome: a report of two cases. J Indian Soc Periodontol 2010;14:275-8.
10. Khan FY, Jan SM, Mushtaq M. Papillon-Lefèvre syndrome: case report and review of the literature. JIndian Soc Periodontol 2012;16:261-5.
12. Sreeramulu B, Shyam ND, Ajay P, Suman P. Papillon-Lefèvre syndrome: clinical presentation and management options. Clin Cosmet Investig Dent 2015;7:75-81.
13. Bhavsar MV, Brahmbhatt NA, Sahayata VN, Bhavsar NV. Papillon-lefevre syndrome: case series and review of literature. J Indian Soc Periodontol 2013;17:806-11.
14. Hacham-Zadeh S, Schaap T, Cohen MM. A genetic analysis of the Papillon-Lefèvre syndrome in a Jewish family from Cochin. Am J Med Genet 1978;2:153-7.
15. Kansky AA, Potocnik M, Kansky A. Papillon-Lefèvre syndrome. Acta Dermatovenerologica 1997;6:60-5.
16. Modell B, Darr A. Science and society: genetic counselling and customary consanguineous marriage. Nat Rev Genet 2002;3:225-9.
17. Hamamy H. Consanguineous marriages: preconception consultation in primary health care settings. J Community Genet 2012;3:185-92.
19. el-Hazmi MA, al-Swailem AR, Warsy AS, al-Swailem AM, et al. Consanguinity among the Saudi Arabian population. J Med Genet 1995;32:623-6.
20. Shawky RM, Elsayed SM, Zaki ME, El-Din SMN, et al. Consanguinity and its relevance to clinical genetics. Egyp J Med Hum Genet 2013;14:157-64.
21. Bhagya B, Sucharitha S, Avadhani R. Prevalence and pattern of consanguineous marriages among different communities in Mangalore. Online J Health Allied Sci 2012;11:7.
23. Pareek SS, Al-Aska AK. Papillon-Lefevre syndrome: a report of six cases in one family. Int J Dermatol 1986;25:638-41.
24. El Darouti MA, Al Raubaie SM, Eiada MA. Papillon-Lefèvre syn-drome. Successful treatment with oral retinoids in three patients. Int J Dermatol 1988;27:63-6.
25. Yacoub AA, Hattab FN. Oral and dermatologic findings in two siblings with Papillon-Lefevre syndrome: review of the literature. Qatar Med J 2008;17:63-7.
26. Soyele OO, Taiwo AO. Papillon-Lefèvre syndrome: clinical presentation and literature review. J Orofac Sci 2015;7:54-8.
27. Upadhyaya JD, Pfundheller D, Islam MN, Bhattacharyya I. Papillon-Lefèvre syndrome: a series of three cases in the same family and a literature review. Quintessence Int 2017;48:695-700.
28. Ghaffer KA, Zahran FM, Fahmy HM, Brown RS. Papillon-Lefèvre syndrome: neutrophil function in 15 cases from 4 families in Egypt. J Oral Surg Oral Med Oral Pathol Oral RadioEndod 1999;88:320-5.
29. Valeshabad AK, Mazidi A, Valeshabad RK, Imani E, Kord H, et al. Papillon-Lefèvre syndrome: a series of six cases in the same family. ISRN Dermatol 2012;2012:139104.
30. 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;54:171-6.
31. Nagaveni NB, Suma R, Shashikiran ND, Reddy SVV. Papillon-Lefevre syndrome: report of two cases in the same family. J Indian Soc Pedod Prev Dent 2008;26:78-81.
32. Laass MW, Hennies HC, Preis S, Stevens HP, Jung M, et al. Localization of a gene for Papillon-Lefèvre syndrome to chromosome Ilql4-q21 by homozygosity mapping. Hum Genet 1997;101:376-82.
33. Toomes C, James J, Wood AJ, Wu CL, McCormick D, et al. Loss-of-function mutations in the cathepsin C gene results in periodontal disease and palmoplantar keratosis. Nat Genet 1999;23:421-4.
34. Hart TC, Hart PS, Bowden DW, Michalec MD, Callison SA, et al. Mutations of the cathepsin C gene are responsible for Papillon-Lefevre syndrome. J Med Genet 1999;36:881-7.
35. McGuire MJ, Lipsky PE, Thiele DL. Purification and characterization of dipeptidyl peptidase I from human spleen. Arch Biochem Biophys 1992;295:280-8.
36. Rao NV, Rao GV, Hoidal JR. Human dipeptidyl-peptidaseI. Gene characterization, localization and expression. J Biol Chem 1997;272:10260-5.
37. Hewitt C, McCormick D, Linden G, Turk D, Stern I, et al. The role of cathepsin C in the Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. Hum Mutat 2004;23:222-8.
38. Hart TC, Hart PS, Michalec MD, Zhang Y, Firatli E, et al. Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. J Med Genet 2000;37:88-94.
39. Hart PS, Zhang Y, Firatli E, Uygur C, Lotfazar M, et al. Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients. J Med Genet 2000;37:927-32.
40. Lefèvre C, Blanchet-Bardon C, Jobard F, Bouadjar B, Stalder JF, et al. Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome. J Invest Dermatol 2001;117:1657-61.
41. Noack B, Görgens H, Hoffmann T, Fanghänel J, Kocher T, et al. Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefèvre syndrome. J Dent Res 2004;83:368-70.
42. Nagy N, Vályi P, Csoma Z, Sulák A, Tripolszki K, et al. CTSC and Papillon-Lefèvre syndrome: detection of recurrentmutations in Hungarian patients, a review of published variants and database update. Mol Genet Genomic Med 2014;2:217-28.
43. Hewitt C, Wu CL, Hattab FN, Amin W, Ghaffar KA, et al. Coinheritance of two rare genodermatoses (Papillon- Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study. Br J Dermatol 2004;151:1261-5.
44. Pharm CT. Neutrophil serine proteases: specific regulators of inflammation. Nat Rev Immunol 2006;6:541-50.
45. Roberts H, White P, Dias I, McKaig S, Veeramachaneni R, et al. Characterization of neutrophil function in Papillon- Lefèvre syndrome. J Leukoc Biol 2016;100:433-44.
46. Van Dyke TE, Taubman MA, Ebersole JL, Haffajee AD, Socransky SS, et al. The Papillon-Lefévre syndrome: neutrophildysfunction with severe periodontal disease. Clin Immunol Immunopathol 1984;31:419-29.
47. Preus H, Gjermo P. Clinical management of prepubertal periodontitis in 2 siblings with Papillon-Lefévre syndrome. J Clin Periodontol 1987;14:156-60.
48. Tinanoff N, Tempro P, Maderazo EG. Dental treatment of Papillon-Lefèvre syndrome: 15-year follow-up. J Clin Periodontol 1995;22:609-12.
49. Velazco CH, Coelho C, Salazar F, Contreras A, Slots J, et al. Microbiological features of Papillon-Lefèvre syndrome periodontitis. J Clin Periodontol 1999;26:622-7.
50. Firatli E, Tüzün B, Efeoğlu A. Papillon-Lefèvre syndrome. Analysis of neutrophil chemotaxis. J Periodontol 1996;67:617-20.
51. Singh AP, Chaitra TR, Singh SP, Kulkarni AU. Initial expression of the Papillon-Lefèvre syndrome in consanguine family. BMJ Case Rep 2012; doi: 10.1136/bcr-2012-006313.
52. Page RC, Offenbacher S, Schroeder HE, Seymour GJ, Kornman KS. Advances in the pathogenesis of periodontitis: summary of development, clinical implications and future directions. Periodontol 2000 1997;14:216-48.
53. Levo Y, Wollner S, Hacham-Zadeh S. Immunological study of patients with the Papillon-Lefevre syndrome. Clin Exp Immunol 1980;40:407-10.
54. Borroni G, Pagani A, Carcaterra A, Pericoli R, Gabba P, et al. Immunological alterations in a case of Papillon-Lefèvre syndrome with recurrent cutaneous infections. Dermatologica 1985;170:27-30.
55. Celenligil H, Kansu E, Ruacan S, Eratalay K. Papillon-Lefèvre syndrome. Characterization of peripheral blood and gingival lymphocytes with monoclonal antibodies. J Clin Periodontol 1992;19:392-7.
56. Lundgren T, Parhar RS, Renvert S, Tatakis DN. Impaired cytotoxicity in Papillon-Lefèvre syndrome. J DentRes 2005;84:414-7.
57. Ham H, Billadeau DD. Human immunodeficiency syndromes affecting human natural killer cell cytolytic activity. Front Immunol 2014;5:2.
58. Bimstein E, Lustmann J, Sela MN, Neriah ZB, Soskolne WA. Periodontitis associated with Papillon-Lefévre syndrome. J Periodontol 1990;61:373-7.
59. Bullon P, Pascual A, Fernandez-Novoa MC, Borobio MV, Muniain MA, et al. Late onset Papillon-Lefèvre syndrome? A chromosomic, neutrophil function and microbiological study. J Clin Periodontol 1993;20:662-7.
60. Lundgren T. Papillon-Lefèvre syndrome: associations to clinical and laboratory factors and results of treatment. Available from: http://muep.mau.se/handle/2043/7931. [Last accessed on 25 Dec 2018].
61. Ishikawa I, Umeda M, Laosrisin N. Clinical, bacteriological, and immunological examinations and the treatment process of two Papillon-Lefèvre syndrome patients. J Periodontal 1994;65:364-71.
62. Clerehugh V, Drucker DB, Seymour GJ, Bird PS. Microbiological and serological investigations of oral lesions in Papillon-Lefévre syndrome. J Clin Pathol 1996;49:255-7.
63. Wara-aswapati N, Lertsirivorakul J, Nagasawa T, Kawashima Y, Ishikawa I. Papillon-Lefèvre syndrome: serumimmunoglobulins G (IgG) subclass antibody response to periodontopathic bacteria. A case report. J Periodontol 2001;72:1747-54.
64. Vrahopoulos TP, Barber P, Liakoni H, Newman HN. Ultrastructure of the periodontal lesion in a case of Papillon-Lefèvre syndrome (PLS). J Clin Periodontol 1988;15:17-26.
65. Cheung HS, Landow RK, Bauer M. Increased collagen synthesis by gingival fibroblasts derived from a Papillon-Lefèvre patient. J Dent Res 1982;61:378-81.
67. Sloan P, Soames JV, Murray JJ, Jenkins WM. Histopathological and ultrastructural findings in a case of Papillon-Lefèvre syndrome. J Periodontol 1984;55:482-5.
68. Kleinfelder JW, Topoll HH, Preus HR, Müller RF, Lange DE, et al. Microbiological and immunohistological findings in a patient with Papillon-Lefèvre syndrome. J Clin Periodontol 1996;23:1032-8.
69. Proceedings of the 1996 World Workshop in periodontics. Lansdowne, Virginia, July 13-17, 1996. Ann Periodontol 1996;1:1-947.
70. Socransky SS, Haffajee AD, Cugini MA, Smith C, Kent RL Jr. Microbial complexes in subgingival plaque. J Clin Microbiol 1998;25:134-44.
71. Popova C, Dosseva-Panova V, Panov V. Microbiology of periodontal diseases. A review. Biotechnol & Biotechnol Eq 2013;27:3754-9.
72. Newman M, Angel I, Karge H, Weiner M, Grinenko V, et al. Bacterial studies of Papillon-Lefévre syndrome. J Dent Res 1977;56:545.
73. Robertson KL, Drucker DB, James J, Blinkhorn AS, Hamlet S, et al. A microbiological study of Papillon-Lefèvre syndrome in two patients. J Clin Pathol 2001;54:371-6.
74. Albandar JM, Khattab R, Monem F, Barbuto SM, Paster BJ. The subgingival microbiota of Papillon-Lefèvre syndrome. J Periodontol 2012;83:902-8.
76. Eronat N, Ucar F, Kilinc G. Papillon-Lefevre syndrome: treatment of two cases with a clinical microbiological and histopathological investigation. J Clin Pediatr Dent 1993;17:99-104.
77. De Vree H, Steenackers K, De Boever JA. Periodontal treatment of rapid progressive periodontitis in 2 siblings with Papillon-Lefèvre syndrome: 15-year follow-up. J Clin Periodontol 2000;27:354-60.
78. Ullbro C, Twetman S. Review paper: dental treatment for patients with Papillon-Lefèvre syndrome (PLS). Eur Arch Paediatr Dent 2007;8:4-11.
80. 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:e85-8.
81. Yazdanfar A, Farahnaki S. Late onset Papillon-Lefevre syndrome with pyogenic liver abscesses: report of one case. Int J Dermatol 2009;48:76-8.
82. Brown RS, Hays GL, Flaitz CM, O’Neill PA, Abramovitch K, et al. A possible late onset variation of Papillon-Lefèvre syndrome: report of 3 cases. J Periodontol 1993;64:379-86.
83. Soskolne WA, Stabholz A, van Dyke TE, Hart TC, Meyle J. Partial expression of the Papillon-Lefèvre syndrome in 2 unrelated families. J Clin Periodontol 1996;23:764-9.
84. Fardal O, Drangsholt E, Olsen I. Palmar plantar keratosis and unusual periodontal findings. Observations from a family of 4 members. J Clin Periodontol 1998;25:181-4.
85. 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.
86. Matthews JB, Wright HJ, Roberts A, Ling-Mountford N, Cooper PR, et al. Neutrophil hyper-responsiveness in periodontitis. J Dent Res 2007;86:718-22.
87. Palmer LJ, Cooper PR, Ling MR, Wright HJ, Huissoon A, et al. Hypochlorous acid regulates neutrophil extracellular trap release in humans. Clin Exp Immunol 2012;167:261-8.
88. Thakare KS, Bhongade ML, Charde P, Kale S, Jaiswal P, et al. Genetic mapping in Papillon-Lefèvre syndrome: a report of two cases. Case Rep Dent 2013;2013:404120.
89. Sørensen OE, Clemmensen SN, Dahl SL, Østergaard O, Heegaard NH, et al. Papillon-Lefèvre syndrome patient reveals species-dependent requirements for neutrophil defenses. J Clin Invest 2014;124:4539-48.
90. Sachdeva S, Kalra N, Kapoor P. Papillon-Lefèvre syndrome: report of a case and its management. J Clin Exp Dent 2012;4:e77-81.
91. Ullbro C, Crossner CG, Nederfors T, Alfadley A, Thestrup-Pedersen K. Dermatological and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome. J Am Acad Dermatol 2003;48:345-51.
92. Firatli E, Gürel N, Efeoglu A, Badur S. Clinical and immunological findings in 2 siblings with Papillon-Lefèvre syndrome. J Periodontol 1996;67:1210-5.
93. Dababneh RH, Jebrin SE, Khouri AT, Bissada NF. Papillon-Lefèvre or Haim-Munk syndrome? Report on two sisters in a consanguineous family. Clin Adv Periodont 2015;5:192-200.
94. Hamon Y, Legowska M, Fergelot P, Dallet-Choisy S, Newell L, et al. Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome. FEBS J 2016;283:498-509.
95. Dababneh RH, Bissada NF. Syndromes that include both palmoplantar keratoderma and severe periodontitis: a review. Dentistry 2013;4:186.
96. Glenwright HD, Rock WP. Papillon-Lefevre syndrome: a discussion of aetiology and a case report. Br Dent J 1990;168:27-9.
97. Pacheco JJ, Coelho C, Salazar F, Contreras A, Slots J, et al. Treatment of Papillon-Lefèvre syndrome periodontitis. J Clin Periodontol 2002;29:370-4.
98. Ullbro C, Crossner CG, Lundgren T, Stålblad PA. Osseointegrated implants in a patient with Papillon-Lefevre syndrome: a 41/2-year follow up. J Clin Periodontol 2000;27:951-4.
99. Senel FC, Altintas NY, Bagis B, Cankaya M, Pampu AA, et al. A 3-year follow-up of the rehabilitation of Papillon-Lefèvre syndrome by dental implants. J Oral Maxillofac Surg 2012;70:163-7.
100. Kinaia BM, Hope K, Zuhaili A, Tulasne JF. Full-mouth rehabilitation with calvarium bone grafts and dental implants for a Papillon-Lefèvre syndrome patient: case report. Int J Oral Maxillofac Implant 2017;32:e259-64.
101. National Organization for Rare Disorders (NORD). Papillon-Lefèvre syndrome. Available from: https://rarediseases.org/rare-diseases/papillon-lefevre-syndrome/. [Last accessed on 25 Dec 2018].
102. Riahi RR, Bush AE, Cohen PR. Topical retinoids: therapeutic mechanisms in the treatment of photodamaged skin. Am J Clin Dermatol 2016;17:265-76.