The Saudi Dental Journal (2010) 22, 95–98

King Saud University

The Saudi Dental Journal

www.ksu.edu.sawww.sciencedirect.com

CASE REPORT

Papillon–Lefevre syndrome: A case report

Kalwa Pavankumar *

Department of Periodontics, Navodaya Dental College and Hospital, Navodaya Nagar, Raichur 584103, Karnataka, India

Received 12 April 2009; revised 8 July 2009; accepted 7 September 2009Available online 6 February 2010

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KEYWORDS

Papillon–Lefevre syndrome;

Palmoplantar

hyperkeratosis;

Premature tooth loss;

Periodontitis

Address: Murali Cloth Stor

ist.) Mahabubnagar, 509204

02617087/9705645566.mail address: drpavankumar

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view under responsibility of

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Abstract Papillon–Lefevre syndrome (PLS) is a rare autosomal recessive disorder of keratiniza-

tion, characterized by palmoplantar hyperkeratosis, periodontal involvement and precocious loss

of 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 and

soles were found. These findings are consistent with Papillon–Lefevre syndrome. The clinical pre-

sentation, differential diagnosis, complications and management of this syndrome are discussed.ª 2010 King Saud University. All rights reserved.

1. Introduction

Papillon–Lefevre syndrome (PLS) is a rare autosomal recessivedisorder of keratinization, characterized by palmoplantarhyperkeratosis, periodontal involvement and precocious loss

of dentition (Jain et al., 2005). It was first described in 1924by two French physicians, Papillion and Lefevre. It has a prev-alence of 1–4 cases per million persons and both males and fe-

Road, (Post) Devarakadra,

Pradesh, India. Mobile: +91

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males are equally affected with no racial predominance (Gorlin

et al., 1964; Cury et al., 2002).The disorder is characterized by diffuse palmoplantar kera-

toderma and premature loss of both deciduous and permanent

teeth. The palmoplantar keratoderma typically has its onsetbetween the ages one and four years (Bach and Levan,1968). The sharply demarcated erythematous keratotic plaques

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 elbowsand knees (Siragusa et al., 2000). This may worsen in winter

and be associated with painful fissures.The keratosis of the plantar surface extends to the edges of

the soles and occasionally onto the skin overlying the Achilles

tendon 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 andfissuring.

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 teeth

Figure 1 Absence of upper and lower incisor teeth (except one

central incisor), upper and lower first molars. Gingiva appeared

erythematous, edematous and bled readily on probing.

96 K. Pavankumar

proceeds normally, but their eruption is associated with severegingival inflammation 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 gingivalinflammation and alveolar resorption is usually so severe that

the 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 inflammation subsidesand gingiva appears healthy. With the eruption of permanentdentition, the whole process of gingivitis and periodontitis is

repeated and there is subsequent premature exfoliation of thepermanent teeth by the age of 13–16 years. Later, the third mo-lars also undergo the same fate. Severe resorption of alveolar

bone gives the teeth a ‘floating-in-air’ appearance on dentalradiographs (Janjua and Khachemoune, 2004; Galanter andBradford, 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 fissuring are apparent

in advanced cases. In addition to the dermatologic and oralfindings, patients may have decreased neutrophil, lymphocyteor monocyte functions and an increased susceptibility to bac-terial infection, leading to recurrent pyogenic infections of

the 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 calcification (Newman, 2003). Reyes also observed radio-

graphic evidence of intracranial calcification (Reys et al., 1998).Histopathologic findings of affected skin consist of hyperkera-tosis, occasional patches of parakeratosis, acanthosis, and

slight perivascular inflammatory infiltrate (Angel et al., 2002).An increased prevalence of parental consanguinity has been

reported 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.

Figure 2 Panaromic view of the radiograph showing generalized

loss of alveolar bone, complete loss of bone support around all

premolars and second molars. Third molars were found to be

erupting in three quadrants.

2. Case report

An 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 five.

Intraoral examination showed premature loss of upper andlower incisor teeth (except one central incisor), upper and low-er first molars. Gingiva appeared erythematous, edematous

and 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 was

loosening of permanent teeth from 12 years of age and eventu-ally many of the permanent teeth were lost by 15 years of age.

Bleeding was also associated at the time of tooth loss. Hence,the patient expressed a keen desire for replacement of all herlost teeth.

Panaromic 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 be

erupting in three quadrants (Fig. 2).Medical history was noncontributory. Parents were not of

consanguineous 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 fingernails, 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% of

11.0 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 confirmed as Papillon–Lefevre syndrome and oral tet-

racycline was given for two weeks, after which clinical

Figure 4 Yellow colored hyperkeratotic areas on soles.

Figure 5 Transverse grooves, in most of the fingernails, which

were prominent on the thumbnail.

Figure 3 Symmetrical, well-demarcated, rough, erythematous,

hyperkeratotic, scaly lesions.

Papillon–Lefevre syndrome: A case report 97

improvement 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. Discussion

In our case, the skin and periodontal findings bore a strikingresemblance to the classical descriptions of the syndrome.The dental history of the patients was also in accordance with

the known symptoms of the syndrome, i.e., early exfoliation of

all deciduous teeth commencing at 3 years of age, with com-plete exfoliation within 2–3 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 on

palpation. The hair and nails appeared normal and transversegrooves on the fingernails were observed in our case. Intrao-ral findings were remarkable, with the characteristic featuresof periodontosis, as has been described for PLS. Patient

had multiple permanent teeth missing. The permanent teeththat were present, exhibited marked mobility, with all thesigns and symptoms of gingival inflammation (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 alveolar

bone loss up to the level of the apical third of the roots ofalmost all the permanent teeth that were present, giving theteeth a ‘floating-in-air’ appearance. All these dental findingsand the skin lesions are consistent with the characteristic fea-

tures of PLS.A multitude of etiologic factors appear to be involved in the

causation of PLS. It has been reported to be due to mutation

of 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 high

levels in various immune cells, including polymorphonuclearleukocytes, macrophages and their precursors (Janjua andKhachemoune, 2004). The exact cause of periodontal disease

in 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 periodontal

damage and alterations in the polymorphonuclear leukocytefunctions, have been postulated as being a probable patho-genic mechanism. Gingival infection, abscess formation, loss

98 K. Pavankumar

of alveolar bone and destruction of periodontal ligament areprobably the causative factors responsible for the sheddingof teeth (Yagmur et al., 2004; Mahajan et al., 2003; Gonzalez

et al., 1997; Ghaffer et al., 1999).Other findings such as intracranial calcification, hyperhi-

drosis, susceptibility to infections, and mental retardation have

been reported (Hacham-Zadeh and Goldberg, 1982). We couldnot observe any of these findings in our case.

Histological changes include hyperkeratosis, focal paraker-

atosis, marked acanthosis, focal parakeratosis, psoriasiformhyperplasia, tortuous capillaries in dermal papilla, and super-ficial perivascular lymphocytic infiltrate. Since dental changesare overlooked by dermatologists, this syndrome is often con-

fused with other heriditary keratodermas, especially those ofUnna-Thost and Mal De Meleda where no odontologicalfinding are seen. Although the association of palmoplantar

keratoderma with periodontal disease was first 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. Oral

retinoids 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 onset

of eruption of permanent teeth at 5 years of age. Treatment ismore beneficial if it is started during the eruption and main-tained during the development, of the permanent teeth. The

periodontitis in PLS is usually difficult to control. Effectivetreatment for the periodontitis includes extraction of the pri-mary teeth combined with oral antibiotics and professional

teeth 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 for

subsequent use in artificial 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 surfaces

of 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 with

retinoids, which can prevent the development of more skin le-sions and modulate the course of periodontitis and, thus, pre-serve the teeth.

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