IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) e-ISSN: 2279-0853, p-ISSN: 2279-0861.Volume 15, Issue 2 Ver. X (Feb. 2016), PP 00-00 www.iosrjournals.org DOI: 10.9790/0853-1521XXXXX www.iosrjournals.org 1 | Page Papillon–Lefevre Syndrome: A Case Report with Review of Literature Abu-Hussein Muhamad* , Abdulgani Azzaldeen**,Chlorokostas Georges***,Koyremada Thomy**** *University of Naples Federic II, Naples, Italy, Department of Pediatric Dentistry, University of Athens, Athens,Greece. **Department of Conservative Dentistry, Al-Quds University, Jerusalem, Palestine ***Implantologist,Private dental practice,Athens,Greece ****Hair Implant Surgeon, , London,UK Abstract :papillon-Lefèvre Syndrome (PLS) Is A Very Rare Autosomal Recessive Disorder Characterized By Palmoplantar Hyperkeratosis And Severe Early Onset Of Destructive Periodontitis Leading To Premature Loss Of Both Primary And Permanent Dentitions. Here We Are Presenting Case Report Of Siblings Who Presented With Palmoplantar Hyperkeratosis And Aggressive Periodontitis. Keywords: Papillon-Lefèvre Syndrome, Periodontitis, Palmoplantar, Hyperkeratosis, Cathepsin C I. Introduction The Papillon-Lefevre Syndrome Was First Described In 1924 As A Rare Autosomal Recessive Genetic Disorder By Two French Physicians Papillon And Lefevre.[1] Characteristically It Is A Diffuse Hyperkeratosis Of Palm And Soles With Severe Periodontitis. Prevalence Of 1-4 Cases Per Million And Carrier Frequency Of 2-4 Per 1000 Population Is Reported With Equal Male And Female Predilection And No Racial Predominance.[2] In Literature Various Terminologies Have Been Used For PLS; Palmar-Plantar Hyperkeratosis With Severe Periodontal Dystruction Involving Both Primary And Permanent Dentition, Palmoplantar Keratoderma With Periodontitis, Keratoris Palmoplantaris With Periodontopathia, Hyperkeratosis Palmoplantaris With Periodontitis.[3] The Recently Identified Genetic Defect In PLS Has Been Mapped To Chromosome 11q14–Q21, Which Involves Mutations Of Cathepsin C .[4] Studies In PLS Patients Have Shown More Than 90% Reduction In Cathepsin C Activity. Despite These Advances In Characterizing The Genetic Basis Of The Syndrome, The Pathogenic Mechanisms Leading To The Periodontal Involvement Remain Elusive.[5] An Impaired Chemotatic And Phagocytic Function Of Polymorphonuclear Leukocytes (Pmns) Has Been Described In Many Reports.In Contrast To The,Above Studies, However, Reported Normal PMN Chemotaxis. Few Reports Have Addressed Lymphocyte Function In PLS.[6] Periodontal Effects Appear Almost Immediately After Tooth Eruption When Gingiva Become Erythematous And Oedematous. Plaque Accumulates In The Deep Crevices And Halitosis Can Ensue. The Primary Incisors Are Usually Affected First And Can Display Marked Mobility By The Age Of 3 Years. By The Age Of 4 Or 5 Years, All The Primary Teeth May Have Exfoliated [7]. Treatment With Oral Hygiene Instructions, Scaling And Root Planing Has Been Reported Unsuccessful1[8]. Non-Surgical Treatment Combined With Use Of Systemic Antibiotics21- 24 And Additional Periodontal Surgery Has Also Been Reported To Fail. Following Such Tooth Loss, The Gingival Appearance Resolves And May Well Return To Health Only For The Process To Be Repeated As The Permanent Dentition Starts To Erupt1. The Majority Of The Teeth Are Lost By The Age Of 14–15 Years.[7,8,9] Generally The Patient Consults Dentist First Because Of Premature Teeth Loss And Associated Problems. This Clinical Report Describes Such A Rare Condition With Special Attention On Its Diagnostic Characterization, Various Treatment Options And Prosthodontic Rehabilitation. The Purpose Of This Paper Is To Demonstrate Clinical As Well As Radiological Features Of Papillion Lefevre Syndrome. II. Case Report A 9-year old female,Syrian immigrants in Greece was referred to my pediatric dental clinic , complaining of loose teeth, red bleeding gums and oral malodour.The patient presented with de-pigmented hair,white-pink skin, nystagmus and palmoplantar keratosis with normal nails.