Papillon–Lefevre syndrome: A case report

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CASE REPORTpitaReceived 12 April 2009; revised 8 July 2009; accepted 7 September 2009Available online 6 February 2010KEYWORDS 2010 King Saud University. All rights reserved.1. IntroductionPapillonLefevre syndrome (PLS) is a rare autosomal recessivedisorder of keratinization, characterized by palmoplantarby two French physicians, Papillion and Lefevre. It has a prev-males are equally affected with no racial predominance (GorlinThe disorder is characterized by diffuse palmoplantar kera-toderma and premature loss of both deciduous and permanent1968). The sharply demarcated erythematous keratotic plaquesand knees (Siragusa et al., 2000). This may worsen in winterthe soles and occasionally onto the skin overlying the Achillestendon and the external malleoli. Other sites that may beaffected include the eyelids, cheeks, labial commissures, legs,thighs and axillae. The hair is usually normal but the nails,in advanced cases, may show transverse grooving andssuring.The second major feature of PLS is severe periodontitis,which starts at the age of three or four years (Yagmur et al.,2004). The development and eruption of the deciduous teeth9902617087/9705645566.E-mail address: 2010 King Saud University. All rights reserved. Peer-review under responsibility of King Saud University.doi:10.1016/j.sdentj.2010.02.009Production and hosting by ElsevierThe Saudi Dental Journal (2010) 22, 9598King SaudThe Saudi Dewww.ksuwww.scienceand be associated with painful ssures.The keratosis of the plantar surface extends to the edges of* Address: Murali Cloth Stores, Main Road, (Post) Devarakadra,(Dist.) Mahabubnagar, 509204, Andhra Pradesh, India. Mobile: +91alence of 14 cases per million persons and both males and fe- may occur focally, but usually involve the entire surface ofpalms and soles resulting in foul-smelling odor (Gorlin et al.,1964). Well-demarcated psoriasiform plaques occur on elbowshyperkeratosis, periodontal involvement and precocious lossof dentition (Jain et al., 2005). It was rst described in 1924teeth. The palmoplantar keratoderma typically has its onsetbetween the ages one and four years (Bach and Levan,et al., 1964; Cury et al., 2002).PapillonLefevre syndrome;Palmoplantarhyperkeratosis;Premature tooth loss;PeriodontitisssAbstract PapillonLefevre syndrome (PLS) is a rare autosomal recessive disorder of keratiniza-tion, characterized by palmoplantar hyperkeratosis, periodontal involvement and precocious lossof dentition. The purpose of this report was to describe the case of an 18-year-old girl who pre-sented to the out patient department of Navodaya Dental College and Hospital, Raichur, Karna-taka, India, with the chief complaint of multiple loss of teeth. Her gingiva appeared erythematous,edematous and bled readily on probing, and the teeth were mobile. Hyperkeratosis of palms andoles were found. These ndings are consistent with PapillonLefe`vre syndrome. The clinical pre-entation, differential diagnosis, complications and management of this syndrome are discussed.PapillonLefevre syndrome: AKalwa Pavankumar *Department of Periodontics, Navodaya Dental College and Hoscase reportl, Navodaya Nagar, Raichur 584103, Karnataka, IndiaUniversityntal (Janjua and Khachemoune, 2004; Galanter andBleeding was also associated at the time of tooth loss. Hence,the patient expressed a keen desire for replacement of all herlost teeth.Figure 1 Absence of upper and lower incisor teeth (except onecentral incisor), upper and lower rst molars. Gingiva appearederythematous, edematous and bled readily on probing.Figure 2 Panaromic view of the radiograph showing generalizedloss of alveolar bone, complete loss of bone support around allpremolars and second molars. Third molars were found to beerupting in three quadrants.96 K. PavankumarBradford, 1969; Mahajan et al., 2003).The degree of dermatologic involvement may not be relatedto the level of periodontal infection (Ullbro et al., 2003). Nailchanges such as transverse grooving and ssuring are apparentin advanced cases. In addition to the dermatologic and oralndings, patients may have decreased neutrophil, lymphocyteor monocyte functions and an increased susceptibility to bac-terial infection, leading to recurrent pyogenic infections ofthe skin. Pyogenic liver abscess is a complication of PLS andis associated with impairment of the immune system (Janjuaand Khachemoune, 2004).Radiographic features are characterized by generalized lossof alveolar bone. Gorlin et al. have added the third feature ofdural calcication (Newman, 2003). Reyes also observed radio-graphic evidence of intracranial calcication (Reys et al., 1998).Histopathologic ndings of affected skin consist of hyperkera-tosis, occasional patches of parakeratosis, acanthosis, andslight perivascular inammatory inltrate (Angel et al., 2002).An increased prevalence of parental consanguinity has beenreported in PLS patients (Gorlin et al., 1964). All PLS patientsare homozygous for the same cathepsin-C gene mutation inher-ited from a common ancestor. It would be pertinent to men-tion that there are reports of at least six cases of late onsetvariation of PLS without underlying cathepsin-C gene muta-tion (Itni, 1992). This case report describes a case of PLS withclinical features and brief review of literature.2. Case reportAn 18-year-old female patient presented to the out patientdepartment of Navodaya Dental College and Hospital, Rai-chur, Karnataka, India, with the chief complaint of multipleloss of teeth. Her history revealed that this condition, togetherwith thickening of the skin, palms and soles was noticed by herfamily at the age of ve.Intraoral examination showed premature loss of upper andlower incisor teeth (except one central incisor), upper and low-er rst molars. Gingiva appeared erythematous, edematousand bled readily on probing (Fig. 1). Her deciduous teethstarted exfoliating at age of three years and only her lower inci-sors erupted again that too became mobile soon. There wasloosening of permanent teeth from 12 years of age and eventu-ally many of the permanent teeth were lost by 15 years of age.proceeds normally, but their eruption is associated with severegingival inammation in the absence of any local etiologicfactor. The gingiva is bright red, edematous and bleeds easily.The periodontal pockets rapidly deepen, with severe loss ofalveolar bone and marked fetor exoris. Although gingivalinammation and alveolar resorption is usually so severe thatthe alveolar process is completely destroyed, even during themost active phase of periodontal destruction, the rest of theoral mucous membrane is reported to be completely normal.Primary dentition is usually exfoliated prematurely by theage of 4 years. After exfoliation, the inammation subsidesand gingiva appears healthy. With the eruption of permanentdentition, the whole process of gingivitis and periodontitis isrepeated and there is subsequent premature exfoliation of thepermanent teeth by the age of 1316 years. Later, the third mo-lars also undergo the same fate. Severe resorption of alveolarbone gives the teeth a oating-in-air appearance on dentalPanaromic view of the radiograph showed generalized lossof alveolar bone, complete loss of bone support around all pre-molars and second molars. Third molars were found to beerupting in three quadrants (Fig. 2).Medical history was noncontributory. Parents were not ofconsanguineous marriage. Dermatological examination re-vealed symmetrical, well-demarcated, rough, erythematous,hyperkeratotic, scaly lesions on her knees, elbows, palms andsoles (Figs. 3 and 4). Transverse grooves, which were presentin most of the ngernails, were most prominent on the thumb-nail (Fig. 5). Subsequently, there was reddening of the palmsand soles at six months of age, which gradually thickenedand became rough and scaly. Her general growth, hair growth,sweat glands and mental development were all normal.Routine hematological examination revealed Hb% of11.0 g/dl, bleeding time 2 min, clotting time 2 min 10 s, to-tal leukocyte count of 9900, polymorph 73%, lymphocyte 23%, eosinophil 4%, and ESR was 20 mm/h.Summing up the clinical features and investigations diagno-sis was conrmed as PapillonLefevre syndrome and oral tet-racycline was given for two weeks, after which clinicalPapillonLefevre syndrome: A case report 97improvement was observed. For her dental condition, oralprophylaxis and a temporary removable prosthodontia appli-ance were suggested. The patient was referred to a dermatolo-gist for further opinion and management.3. DiscussionIn our case, the skin and periodontal ndings bore a strikingresemblance to the classical descriptions of the syndrome.The dental history of the patients was also in accordance withthe known symptoms of the syndrome, i.e., early exfoliation ofFigure 4 Yellow colored hyperkeratotic areas on soles.Figure 3 Symmetrical, well-demarcated, rough, erythematous,hyperkeratotic, scaly lesions.all deciduous teeth commencing at 3 years of age, with com-plete exfoliation within 23 years.Clinically, the patients had the characteristic skin lesions:sharply demarcated keratotic plaques involving the entire sur-face of the palms and soles. The lesions were diffuse, with adry, scaly surface; they varied in thickness and were rough onpalpation. The hair and nails appeared normal and transversegrooves on the ngernails were observed in our case. Intrao-ral ndings were remarkable, with the characteristic featuresof periodontosis, as has been described for PLS. Patienthad multiple permanent teeth missing. The permanent teethFigure 5 Transverse grooves, in most of the ngernails, whichwere prominent on the thumbnail.that were present, exhibited marked mobility, with all thesigns and symptoms of gingival inammation (such as red-ness and edema and deepening of periodontal pockets thatbled on probing) but without evidence of local factors.Radiograph (OPG) of the patients showed extensive alveolarbone loss up to the level of the apical third of the roots ofalmost all the permanent teeth that were present, giving theteeth a oating-in-air appearance. All these dental ndingsand the skin lesions are consistent with the characteristic fea-tures of PLS.A multitude of etiologic factors appear to be involved in thecausation of PLS. It has been reported to be due to mutationof the cathepsin-C gene, which is expressed in the commonlyaffected epithelial regions such as the palms, soles and kneesand the keratinized oral gingiva. It is also expressed at highlevels in various immune cells, including polymorphonuclearleukocytes, macrophages and their precursors (Janjua andKhachemoune, 2004). The exact cause of periodontal diseasein PLS has not been found, but it has been attributed to de-crease neutrophil phagocytosis, bacterial infection and im-paired reactivity to T- and B-cell mitogens (Rathi, 2002).Actinomyces actinomycetemcomitans, causing periodontaldamage and alterations in the polymorphonuclear leukocytefunctions, have been postulated as being a probable patho-genic mechanism. Gingival infection, abscess formation, lossof alveolar bone and destruction of periodontal ligament areprobably the causative factors responsible for the sheddingof teeth (Yagmur et al., 2004; Mahajan et al., 2003; Gonzalezet al., 1997; Ghaffer et al., 1999).Other ndings such as intracranial calcication, hyperhi-drosis, susceptibility to infections, and mental retardation havebeen reported (Hacham-Zadeh and Goldberg, 1982). We couldnot observe any of these ndings in our case.Histological changes include hyperkeratosis, focal paraker-atosis, marked acanthosis, focal parakeratosis, psoriasiformhyperplasia, tortuous capillaries in dermal papilla, and super-cial perivascular lymphocytic inltrate. Since dental changesare overlooked by dermatologists, this syndrome is often con-fused with other heriditary keratodermas, especially those ofReferencesAlmuneef, M., Al Khenaizan, S., Al Ajaji, S., Al-Anazi, A., 2003.Pyogenic liver abscess and PapillonLefe`vre syndrome: not a rareassociation. Pediatrics 111 (1), e85e88.Angel, T.A., Hsu, S., Kornbleuth, S.I., Kornbleuth, J., Kramer, E.M.,2002. Papillon Lefevre syndrome: a case report of four affectedsiblings. J. Am. Acad. Dermatol. 46, S8S10.Bach, J.N., Levan, N.E., 1968. PapillonLefevre syndrome. Arch.Dermatol. 97, 154158.Cury, V.F., Costa, J.E., Gomez, R.S., Boson, W.L., Loures, C.G., De,M.L., 2002. A novel mutation of cathepsin C gene in PapillonLefevre syndrome. J. Periodontol. 73, 307312.Galanter, D.R., Bradford, S., 1969. Case report. Hyperkeratosispalmoplantaris and periodontosis: the PapillonLefevre syndrome.98 K. PavankumarUnna-Thost and Mal De Meleda where no odontologicalnding are seen. Although the association of palmoplantarkeratoderma with periodontal disease was rst reported bydermatologists, most subsequent publications have appearedin the dental literature. The diagnosis of PLS may require col-laboration between the dermatologist and dentist.The skin manifestations of PLS are treated with emollients,with salicylic acid and urea added to enhance the effect. Oralretinoids including acitretin, etretinate and isotretinoin arethe mainstay of treatment of both the keratoderma and theperiodontitis associated with PLS. Normal dentition is ob-served with retinoids only when they are given before the onsetof eruption of permanent teeth at 5 years of age. Treatment ismore benecial if it is started during the eruption and main-tained during the development, of the permanent teeth. Theperiodontitis in PLS is usually difcult to control. Effectivetreatment for the periodontitis includes extraction of the pri-mary teeth combined with oral antibiotics and professionalteeth cleaning. It is reported that etretinate and acitretin mod-ulate the course of periodontitis and preserve the teeth. Acourse of antibiotics should be tried to control the active peri-odontitis in an effort to preserve the teeth and to prevent bac-teremia and subsequently pyogenic liver abscess (Almuneefet al., 2003). Early extraction of teeth has also been advocatedto prevent bone loss and allow preservation of a solid base forsubsequent use in articial dentures (Janjua and Khachemo-une, 2004; Mahajan et al., 2003). Hence, we suggest that if par-ents notice keratotic plaques on the palms or plantar surfacesof the feet of their child, they should consult a dermatologist.Histological examination of the lesions will enable an earlydiagnosis of PLS so that early treatment can be instituted withretinoids, which can prevent the development of more skin le-sions and modulate the course of periodontitis and, thus, pre-serve the teeth.J. Periodontol. 1, 4047.Ghaffer, K.P., Zahran, F.M., Fahmy, H.M., Brown, R.S., 1999.PapillonLefevre syndrome: neutrophil function in 15 cases from 4families in Egypt. Oral Surg. Oral Med. Oral Pathol. Oral Radiol.Endod. 88, 320325.Gonzalez, J.R., Chabrier, L., Rodriguez, R.J., 1997. Papillion Lefevresyndrome: a case report and review of literature. PR Health Sci. J.16, 279281.Gorlin, R.J., Sedano, H., Anderson, V.E., 1964. The syndrome ofpalmarplantar hyperkeratosis and premature periodontal destruc-tion of the teeth. J. Pediatr. 65, 895908.Hacham-Zadeh, S., Goldberg, L., 1982. Malignant melanoma andPapillionLefevre syndrome. Arch. Dermatol. 118, 2.Itni, P.H., 1992. Classication of autosomal dominant palmoplanterkeratoderma: past and future. Dermatology 185, 163165.Jain, V., Gupta, R., Prakash, H., 2005. Prosthodontic rehabilitation inPapillonLefevre syndrome: a case report. J. Indian Soc. Pedod.Prev. Dent. 23, 9698.Janjua, S.A., Khachemoune, A., 2004. PapillonLefevre syndrome:case report and review of the literature. Dermatol. Online J. 10, 13.Mahajan, V.K., Thakur, N.S., Sharma, N.L., 2003. PapillonLefevresyndrome. Indian Pediatr. 40, 11971200.Newman, M.G., Takei, H.H., Carranza, F.A., 2003. Clinical Peri-odontology, 9th ed. Saunders, Pennysylvania.Rathi, S.K., 2002. PapillonLefevre syndrome in two brothers. IndianJ. Dermatol. Venerol. Leprol. 68, 155156.Reys, V.O., King-Ismael, D., Abad-Venida, L., 1998. Papillon Lefevresyndrome. Int. J. Dermatol. 37, 268270.Siragusa, M., Romano, C., Batticane, N., Batolo, D., Schepis, C.,2000. A new family with PapillonLefevre syndrome: effectivenessof etretinate treatment. Cutis 65, 151155.Ullbro, C., Crosner, C.G., Nederfors, T., Thelstrup-Pederson, K.,2003. Dermatologic and oral nding in a cohort of 47 patients withPapillon Lefevre syndrome. J. Am. Acad. Dermatol. 48, 345351.Yagmur, A., Yilmaz, G., Ertan, U., IKizoglu, E., Ozkasap, S.,Karacan, C., 2004. Papillon Lefevre syndrome: a case report. Int.Pediatr. 19, 224225.PapillonLefevre syndrome: A case reportIntroductionCase reportDiscussionReferences


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