Papillon–Lefèvre syndrome mimicking psoriasis – A rare case report

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<ul><li><p></p><p>i n d i a n j o u r n a l o f d e n t i s t r y 4 ( 2 0 1 3 ) 2 1 1e2 1 4Available online at wjournal homepage: www.elsevier .com/locate/ i jdCase ReportPapilloneLefevre syndrome mimicking psoriasis eA rare case reportK. Ramesh a,*, Maya Ramesh b, Karthik Venkataraghavan c</p><p>a Professor Department of Pedodontics &amp; Preventive Dentistry, VMSDC, Salem, IndiabReader, Department of Oral Pathology VMSDC, Salem, IndiacProfessor &amp; HOD, College of Dental Sciences, Ahmadabad, Gujarat, indiaa r t i c l e i n f o</p><p>Article history:</p><p>Received 1 March 2012</p><p>Accepted 16 May 2013</p><p>Keywords:</p><p>PapilloneLefevre syndrome</p><p>Periodontitis</p><p>Hyperkeratosis</p><p>Psoriasis* Corresponding author. 144, Andal Street, T9791842343 (mobile).</p><p>E-mail address: (K0975-962X/$ e see front matter 2013 India b s t r a c t</p><p>PapilloneLefevre syndrome is a rare disease characterized by skin lesions caused by palmar-</p><p>plantar hyperkeratosis and severe periodontal destruction involving both the primary and</p><p>permanent dentitions. It is transmitted as an autosomal recessive condition and consan-</p><p>guinity of parents is evident in about one third of the cases. This paper reports a unique case</p><p>of a patient with PapilloneLefevre syndrome (PLS) that was earlier mistaken for psoriasis.</p><p>The examination revealed severe hyperkeratosis on the hands and feet with associated se-</p><p>vere periodontal conditions. The patient was diagnosed with PapilloneLefevre syndrome</p><p>and suitable treatment was initiated.</p><p> 2013 Indian Journal of Dentistry. All rights reserved.1. Introduction and to the volar wrists. Involvement of the soles extends toPapilloneLefevre syndrome (PLS) was first described in the</p><p>literature by Papillon and Lefevre in 1924. More than 200 cases</p><p>have been reported till today. The syndrome is a rare auto-</p><p>somal recessive trait with an incidence between one and four</p><p>persons per million. 20e40% of the cases show parental con-</p><p>sanguinity.1 No gender predilection is detected till date.2</p><p>PapilloneLefevre syndrome is characterized by palmar-</p><p>plantar hyperkeratosis, and rapid destruction of the alveolar</p><p>bone and periodontium of both the primary and permanent</p><p>dentitions, commencing at the time of tooth eruption. Skin</p><p>lesions usually present from 6 months to 3 years of age,</p><p>approximating the time of tooth eruption. These may start as</p><p>diffuse red and scaly patches on the palms of the hands and</p><p>soles of the feet. Lesions are well demarcated and predomi-</p><p>nantly affect the palms extending to the thenar eminenceshirumal Nagar, Alagapur</p><p>. Ramesh).n Journal of Dentistry. Althe Achilles tendon. There can be occasional involvement of</p><p>the eyelids, cheeks, labial commissures, knees, elbows,</p><p>thighs, externalmalleoli, toes and dorsal fingers. The soles are</p><p>frequently affected more severely than the other regions,</p><p>which makes walking difficult.1,2 Periodontal effects appear</p><p>almost immediately after tooth eruption when gingivae</p><p>become erythematous and edematous. Plaque accumulate in</p><p>the deep crevices and halitosis can be present. The primary</p><p>incisors are usually affected first and display marked mobility</p><p>by the age of 3 years. By the age of 4e5 years, all the primary</p><p>teeth are exfoliated and the gingival health comes back to</p><p>normal. But the same process is repeated as the permanent</p><p>dentition starts to erupt.1 Themajority of the permanent teeth</p><p>are lost by the age of 14e15. There is dramatic alveolar bone</p><p>destruction, often resulting in atrophied jaws.2 The case</p><p>described below is of a 4-year-old girl served to illustrate theam, Salem, Tamil Nadu 636004, India. Tel.: 91 427 2444886, 91</p><p>l rights reserved.</p><p>mailto:drrameshk@gmail.com;</p></li><li><p>i n d i a n j o u rn a l o f d e n t i s t r y 4 ( 2 0 1 3 ) 2 1 1e2 1 4212periodontal effects of PapilloneLefevre syndrome on the pri-</p><p>mary dentition.Fig. 2 e Hyperkeratosis of the soles of the feet.2. Case report</p><p>A 4-year-old girl reported to the dental clinic with a chief</p><p>complaint of loose teeth and discomfort while eating. On</p><p>clinical examination all anterior teeth were mobile &amp; skin le-</p><p>sions were present.</p><p>Family history revealed a consanguineous marriage of the</p><p>parents (first cousins), neither ofwhomappeared affected. The</p><p>mother reported that the skin lesions started appearing by the</p><p>end of one year after birth. They had presumed this to be pso-</p><p>riasis &amp; started treatment but did not achieve the desired re-</p><p>sults. The patient was referred by a practitioner for a thorough</p><p>examination, proper diagnosis and treatment of the condition.</p><p>Extra oral examination revealed hyperkeratosis of the palms of</p><p>the hands, soles of the feet and the knees (Figs. 1 and 2).</p><p>Intraoral examination revealed that all the primary teeth were</p><p>present. Oral hygiene was poor. The upper and the lower an-</p><p>teriors showed plaque accumulation, gingival recession, juve-</p><p>nile periodontitis and mobility (Figs. 3 and 4). Periodontal</p><p>abscesses were seen associated with the lower right and left</p><p>first and second primary molars (Figs. 5 and 6). Radiographic</p><p>examination (orthopantomogram) confirmed the presence of</p><p>generalized destruction of the alveolar bone around the pri-</p><p>mary dentition with generalized horizontal bone loss. Tooth</p><p>buds of permanent teeth were seen below the deciduous teeth</p><p>(Fig. 7). From the presenting conditions, a diagnosis was made</p><p>of PapilloneLefevre syndrome. Because of the severe peri-</p><p>odontal destruction, periodontal treatment was initiated. The</p><p>patientwasput undermedications andwas recalled for scaling</p><p>and curettage. The patient is currently kept under periodic re-</p><p>view to initiate suitable treatment at an appropriate time.3. Discussion</p><p>PapilloneLefevre syndrome is evident in 1e4 persons per</p><p>million population and the disease carriers are thought to be</p><p>2e4 per thousand persons.3 In most cases, dermatologicFig. 1 e Hyperkeratosis of the palms of the hand.manifestations become evident in the first three years of life.</p><p>Some patients describe worsening of the symptoms in winter</p><p>mimicking the manifestations of psoriasis.</p><p>The oral manifestations consist of advanced periodontitis</p><p>involving both deciduous and permanent dentitions and</p><p>develop soon after the eruption of teeth. A rapid loss of</p><p>attachment is seen with the teeth lacking osseous support.</p><p>Radiographically teeth appear to float in soft tissues. Without</p><p>aggressive therapy, loss of teeth is inevitable. Alveolarmucosa</p><p>becomes normal when teeth are absent. Aggregatibacter acti-</p><p>nomycetemcomitans has been related to the periodontal</p><p>destruction. Although a hereditary component and leukocyteFig. 3 e Plaque accumulation and gingival recession in</p><p>upper anteriors.</p><p></p></li><li><p>Fig. 4 e Plaque accumulation and gingival recession in</p><p>lower anteriors.</p><p>Fig. 6 e Periodontal abscesses in relation to lower right first</p><p>and second primary molars.</p><p>i n d i a n j o u r n a l o f d e n t i s t r y 4 ( 2 0 1 3 ) 2 1 1e2 1 4 213dysfunction can be demonstrated, it appears that an infection</p><p>with A. actinomycetemcomitans is necessary for the periodontal</p><p>component to develop. Leukocyte dysfunction may be</p><p>induced by infectionwithA. actinomycetemcomitans, secondary</p><p>to the generated leukotoxins.33.1. Histopathology</p><p>Sloan et al studied the gingiva of a 3-year-old Iranian boy</p><p>suffering from PapilloneLefevre syndrome was examined by</p><p>light and electron microscopy. Deep pockets associated with</p><p>predominantly Gram-negative plaque were present. The</p><p>gingival lesionwas dominated by plasma cells, many of whichFig. 5 e Periodontal abscesses in relation to lower left first</p><p>and second primary molars.were degenerate. Russell bodies were a prominent feature. No</p><p>defect of epithelium was detected.4 As this patient was not</p><p>willing for incisional biopsy, the histopathologic picture of</p><p>this patient is not available.3.2. Pathophysiology</p><p>In subjects with PapilloneLefevre syndrome there is defective</p><p>cathepsin C production. The gene for cathepsin C lies on</p><p>chromosome 11. Cathepsin C is a lysosomal protease and it is</p><p>distributed to many tissues. Cathepsin C is involved in the</p><p>activation of T cells. The exact biochemical defect leading to</p><p>periodontal disease is still unclear. In 1942, Wannenmacher</p><p>suggested that PapilloneLefevre syndrome was due to a</p><p>combination of ecto and mesodermal malformations. Saaha-</p><p>net al suggested that a functional imbalance of collagenolytic</p><p>activity in the periodontal ligament was responsible for peri-</p><p>odontitis in PapilloneLefevre syndrome. In 1984, VanDyke</p><p>suggested that neutrophils from an individual with Papil-</p><p>loneLefevre syndrome exhibit decreased receptor affinity for</p><p>chemotaxins such as formyl peptides. Page RC et al in sug-</p><p>gested defective cementum formation to be the cause for</p><p>periodontitis in PapilloneLefevre syndrome. PapilloneLefevre</p><p>syndrome is associated with myeloperoxidase deficiency, low</p><p>integrin expression, defective phagocytosis and chemotaxins.</p><p>Neutrophils from individuals with PapilloneLefevre syn-</p><p>drome exhibit decreased affinity for chemotaxins.5Fig. 7 e Orthopantomogram showing horizontal bone loss</p><p>in the primary dentition with permanent tooth buds.</p><p></p></li><li><p>i n d i a n j o u rn a l o f d e n t i s t r y 4 ( 2 0 1 3 ) 2 1 1e2 1 4214Hattab et al, reported four cases of PapilloneLefevre syn-</p><p>drome affecting two Jordanian families with eight children. In</p><p>all patients there was a relationship between increased</p><p>severity of skin lesions and seasonal variations and intensified</p><p>periodontal destruction. Lass et al in three multiplex families,</p><p>one Ethiopian and two German, demonstrated linkage of</p><p>PapilloneLefevre syndrome with chromosome 11q13-q14.</p><p>Fischer et al, conducted a primary genome wide search by</p><p>homozygositymapping in a large consanguineous family with</p><p>four affected siblings. Homozygosity and linkage was</p><p>demonstrated in region 11q14 of chromosome.5</p><p>Toomes et al believe that the syndromemay be genetically</p><p>determined and have demonstrated loss-of-function muta-</p><p>tions affecting both alleles of the lysosomal protease</p><p>cathepsin C gene in patients with PLS. The cathepsin C gene,</p><p>which is located on chromosome 11q14.1-q14.3 has endo-</p><p>peptidase activity and is expressed in epithelial regions</p><p>commonly affected by PLS including palms, soles, knees, and</p><p>keratinized oral gingiva. It is also expressed at high levels in</p><p>various immune cells including polymorphonuclear leuko-</p><p>cytes, macrophages, and their precursors. Ryu et al believe</p><p>that the severe periodontal destruction seen in Papil-</p><p>loneLefevre syndrome may be a result of loss of function</p><p>mutation in the cathepsin C gene and subsequent dysregula-</p><p>tion of localized polymorphonuclear leucocytes in inflamed</p><p>periodontal tissues.6</p><p>Hart et al, reported mutations in cathepsin C gene in pa-</p><p>tients with PapilloneLefevre syndrome from five different</p><p>countries.5</p><p>A closely related disease, HaimeMunk syndrome also ex-</p><p>hibits palmoplantar keratosis, progressive periodontal dis-</p><p>ease, recurrent skin infections and several skeletal</p><p>malformations. In this syndrome, the skin manifestations are</p><p>more severe and the periodontal disease is milder. This also</p><p>exhibit mutation of the Cathepsin C gene and has been shown</p><p>to represent an allelic variant of PapilloneLefevre syndrome.3</p><p>Severe periodontal and alveolar bone destruction in children</p><p>necessitate that the life-threatening disorders should be</p><p>excluded. These differential diagnosis include leukemia and</p><p>neutropenias, where loosening of the teeth is an associated</p><p>feature, along with extensive gingivitis, hemorrhage and ul-</p><p>ceration. Other disorders where premature loss of primary</p><p>and/or permanent teeth occur include hypophosphatasia,</p><p>Langerhans cell histiocytosis, ChediakeHigashi syndrome,</p><p>acrodynia and acatalasia.7,8</p><p>3.3. Treatment modalities</p><p>Various treatment modalities have been suggested,</p><p>including: early extraction of all primary teeth to eliminateall pathogens involved and allow the remaining teeth to</p><p>erupt without infection. A multidisciplinary approach is</p><p>necessary in the management of these patients. The skin</p><p>manifestations can be treated with emollients. The</p><p>administration of oral retinoids is the mainstay of hyper-</p><p>keratosis and periodontitis. The periodontal disease may be</p><p>arrested by improving oral hygiene, extraction of severely</p><p>diseased teeth, scaling, systemic antibiotics and long term</p><p>antimicrobial irrigation. But inspite of extensive peri-</p><p>odontal therapy and antibiotics, the disease progresses in</p><p>many patients until all the teeth are lost. The use of im-</p><p>plants can be considered if the remaining alveolar bone is</p><p>sufficient, for severely dentally compromised patients.</p><p>Rigorous oral hygiene, chlorhexidine mouth rinses,</p><p>frequent professional prophylaxis and periodic appro-</p><p>priate antibiotic therapy are necessary for long term</p><p>maintenance.3Conflicts of interest</p><p>All authors have none to declare.r e f e r e n c e s</p><p>1. Patel, Davidson LE. PapilloneLefevre syndrome: a report of twocases. Int J Paediatr Dent. 2004;14:288e294. BSPD and IAPD.</p><p>2. Papillon MM, Lefevre P. Deux cas de keratodermie palmaire etplantaire symetrique familiale (maladie de Meleda) chez lefrere et la soeur: coexistence dans les deux cas dalterationsdentaires grave. Bulletin de la Societe Francaise de Dermatologie etde Syphiligraphie. 1924;31:82e84.</p><p>3. Neville Brad W, Damm Douglas D, Allen Carl M, Bouquot JerryE. Oral and Maxillofacial Pathology. 2nd ed. W B SaundersCompany; 2002.</p><p>4. Sloan P, Soames JV, Murray JJ, Jenkins WM. Histopathologicaland ultrastructural findings in a case of PapilloneLefevresyndrome. J Periodontol. 1984 Aug;55(8):482e485.</p><p>5. Rathod Varsha J, Joshi Nilesh V. PapilloneLefevre Syndrome: areport of two cases. J Indian Soc Periodontol. 2010 OctDec;14(4):275e278.</p><p>6. Sachdeva Shabina, Kalra Namita, Kapoor Pranav.PapilloneLefevre syndrome: report of a case and itsmanagement. J Clin Exp Dent. 2012;4(1):e77e81.</p><p>7. Galanter DR, Bradford S. Case report e hyperkeratosispalmoplantaris and periodontosis the PapilloneLefevresyndrome. J Periodontal. 1969;1:40e47.</p><p>8. Patel SJ, Umarji RH. PapilloneLefevre syndrome e a casereport. J Indian Acad Oral Med Radiol. 2004;16:306e310.</p><p></p></li></ul>


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