|Year : 2008 | Volume
| Issue : 1 | Page : 36-40
Papillon Lefèvre syndrome: A report of 3 cases with review of literature
Anita Munde, Manjiri Joshi, Sonia Sagoo, Safia Shoeb
Department of Oral Medicine and Radiology, Rural Dental College of Pravara Institute of Medical Sciences, Loni-413 736, Rahata, Ahmednagar, Maharashtra, India
Department of Oral Medicine and Radiology, Rural Dental College of Pravara Institute of Medical Sciences, Loni 413736, Tal- Rahata, Dist- Ahmednagar, Maharashtra
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Papillon Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinisation characterized by palmoplantar hyperkeratosis, periodontopathy and precocious (premature) loss of dentition. Exact mechanism of these clinical events mainly remains speculative. The periodontitis in PLS is usually difficult to control. Effective treatment includes extraction of primary teeth combined with oral antibiotics and professional teeth cleaning. Dentists play a significant role in the diagnosis and management of PLS patients. This paper describes 3 cases of PLS reporting to the out patient department within a span of 2 years with classic clinical features and briefly reviews the literature.
Keywords: Palmoplantar hyperkeratosis, papillon Lefèvre syndrome and periodontitis
|How to cite this article:|
Munde A, Joshi M, Sagoo S, Shoeb S. Papillon Lefèvre syndrome: A report of 3 cases with review of literature. J Indian Acad Oral Med Radiol 2008;20:36-40
|How to cite this URL:|
Munde A, Joshi M, Sagoo S, Shoeb S. Papillon Lefèvre syndrome: A report of 3 cases with review of literature. J Indian Acad Oral Med Radiol [serial online] 2008 [cited 2021 Jan 17];20:36-40. Available from: https://www.jiaomr.in/text.asp?2008/20/1/36/44360
| Introduction|| |
Papillion Lefèvre syndrome (PLS) first described in 1924 refers to palmoplantar hyperkeratosis associated with severe periodontopathy.  The syndrome appears in childhood and adolescence however a late onset variation of the disease has been reported. , Its reported incidence is 1-4 per million and both sexes are equally affected. It is characterized by palmoplantar hyperkeratosis, periodontopathy and premature loss of deciduous as well as permanent teeth. It manifests between 1 and 5 years of life and patient becomes edentulous in the early teens. Another component of PLS is asymptomatic ectopic calcification in choroid plexus and although this has been taken as a cardinal feature, but being inconsistent, it is not considered important for the diagnosis.  About 20 % of these patients show an increased susceptibility to infections due to some dysfunction of lymphocytes and leukocytes. 
We describe here 3 cases of PLS with classic clinical features.
| Case Reports|| |
A 6 year old boy presented with the complaints of loose teeth, multiple missing teeth and was unable to chew properly. History revealed that his deciduous teeth had erupted normally but exfoliated gradually by the age of 5-6 years. Similarly, his few permanent teeth too were lost prematurely after erupting normally. There was a history of recurrent swelling of gums and foul breath followed by loosening and exfoliation of teeth. At the age of 4, his parents also noticed a progressive thickening of palmoplantar skin. There was no history of other serious illness or susceptibility to infections in areas other than the oral cavity. The parents and siblings of the boy were normal.
Intra oral exam showed generalized severe periodontitis, manifested by gingival enlargement, redness and gingival recession. The teeth were mobile, drifted and extruded [Figure 1] giving the appearance of swinging on the ridge. The teeth were normal in size and shape. The following teeth were missing 11, 16, 24, 26, 31, 32, 41, 42 and 46. There was grade III mobility with 21, 25, 33, 34, 35, 36 and grade II mobility with 12, 13, 14, 17, 22, 23, 27, 44 and 45.
Dermatological examination revealed a bilateral and symmetric hyperkeratosis of the palms and soles. The keratotic lesions of the palm were extended to dorsal and lateral aspects of the hands. The lesions were hyperkeratotic, erythematous and scaly with fissures [Figure 2] and [Figure 3] and prone to periods of remission in summer and exacerbation in winter. The soles were more affected [Figure 4] than palms; however the hair nails and sebaceous secretions were normal.
Radiographic examination revealed generalized severe alveolar bone loss [Figure 5]. The 21, 25, 36 teeth were almost entirely without bone support (floating in the air) with no evidence of root resorption. The drifting of teeth was also seen. Total extraction was advised considering the severe alveolar bone destruction. Complete upper and lower dentures were constructed and patient was able to use them efficiently within a few days.
A 14 year girl reported to our out patient department (OPD) for the complaints of loose teeth. She gave history of early loss of her deciduous teeth after normal eruption and development of palmoplantar keratosis at the age of 5. Family history was noncontributory.
On clinical examination, the following teeth were missing 14, 31, 41 and 42. The gingivae around the teeth were red, swollen with deep periodontal pockets. The alveolar mucosa covering the edentulous region was normal. All the teeth were having grade II to grade III mobility except 37 and 47 (Grade I). Drifting of the teeth was also noted.
Dermatological examination revealed hyperkeratosis of the palmar and plantar skin radiating onto the lateral and dorsal surfaces of the hands and feet [Figure 6]. The lesions were scaly, cracked but mild compared to that of case 1. Panoramic radiographic examination revealed generalized severe alveolar bone loss with most of the teeth in both jaws, 38 and 48 were missing while 18 and 28 were erupting [Figure 7]. Hair growth, sweating and nails were normal. Total extraction followed by complete dentures was advised.
An 18 year female patient reported to our OPD for the complaints of loose teeth. History revealed that she lost her deciduous teeth after normal eruption at the age of 5-6. The permanent teeth also erupted normally and in the sequence. There was history of extraction of 34 and scaling and root planning. Since last 2-3 years she has noticed recurrent pain, gingival bleeding, pus discharge and mobility of the teeth. Since one year the condition has become worse. Patient also reports thickening of skin of palms and soles which becomes worse during winter season. There is no other history of any other illness or susceptibility to infections in areas other than oral cavity. No history of similar complaints in the family.
On clinical examination there was generalized gingival inflammation, deep periodontal pockets, gingival recession and grade III mobility of the teeth. Dermatological exam revealed hyperkeratosis of plantar skin radiating onto the lateral and dorsal surfaces of the feet. Comparatively, the lesions of the hand were very mild and only slight erythema was evident. She was under treatment for these skin lesions.
Panoramic radiographic examination revealed generalized severe alveolar bone destruction. All teeth were almost entirely without bone support (standing in space appearance). Total extraction was advised except mandibular 3 rd molar (38). Patient underwent total extraction and implant supported prosthesis was given.
| Discussion|| |
Papillon Lefθvere syndrome first described by Papillon and Lefθvre the two French physicians, is an extremely rare genodermatitis inherited as an autosomal recessive trait. A high frequency of this disease has been found in Saudi Arabia, with parental consanguity in about 40 percent.  Typically the parents are not affected and there is no family history of this disorder than affected persons and possibly some siblings. , All the three reported patients were the only persons affected in the family. There have been reports of three siblings affected with PLS in a single family.  The syndrome was once considered a rare entity but an increasing number are being reported probably due to increasing awareness about oral and skin manifestations of this condition. The present cases of PLS exhibit the typical clinical features of this condition i.e., hyperkeratosis of palms and soles and generalized rapidly progressing periodontitis accompanied by severe alveolar bone destruction leading to early loss of both deciduous and permanent teeth. The above reported cases had essentially the similar cutaneous lesions but varied in the severity and extension. These cutaneous lesions were more aggravated during cold weather. A characteristic fluctuation of skin lesions during summer and winter was also observed by other authors.  We also noticed that the skin lesions of soles were more severely affected than that of palms. Exacerbation of skin lesions was observed at times of acute gingivitis and periodontal abscess formation.  Our patients did not report such relationships. The hair and nails of these patients were normal. Other occasional findings such as intracranial calcification, hyperkeratosis of thighs, eyelids, cheeks, regional lymphadenopathy, recurrent pyoderma, thumb nail dystrophy and hypohidrosis were not evident in our patients.
The onset of dermatological lesions varies and has been noticed to occur as early as birth or between six months and four years of age, normally coinciding with the eruption of primary teeth. The location and severity of keratoderma is also variable. It may be present on the legs, knees, thighs, trunk and the dorsal surfaces of fingers and toes in the form of white, yellow, brown, red plaques or patches which may undergo crustation or fissuring.  Thickening of plantar skin with resultant cracking may make walking difficult. The skin apparently improves somewhat with age but some degree of keratosis remains throughout life. Relapsing pyoderma is seen in 20 percent of patients.
The oral manifestations of PLS may appear simultaneously with the onset of palmoplantar hyperkeratosis. The primary teeth erupt at the expected age in the normal sequence and are of normal form and structure. However, microdontia, incomplete tooth formation, root resorption have also been reported.  These findings were not present in our patients. Once the primary teeth erupt, rapidly progressing periodontitis ensues. The gingiva becomes red, swollen, inflamed and halitosis is invariably present. Deep periodontal pockets are formed from which pus extrudes in the slightest pressure. There is excessive mobility of the teeth, extensive bone resorption occurs and tooth loss is rapid albeit painless.
PLS is caused by mutations in cathepsin C gene located on chromosome 11q14.1-q14.3 The cathepsin C gene encodes a cystine lysosomal protease also known as dipeptidyl peptidase I. It is expressed in epithelial regions commonly affected by PLS such as palms, soles, knees and keratinized gingiva. It is also expressed at high levels in various immune cells including polymorphonuclear leucocytes, macrophages and their precursors. , The exact cause of the periodontal disease has not been found but it has been attributed to decreased neutrophil phagocytosis, bacterial infection and impaired reactivity to T and B cell mitogens. The exact mechanism of the increased susceptibility to infections is also unknown but some investigators have demonstrated a dysfunction in neutophil motility and bactericidal function. 
Histopathological findings of affected skin and gingiva have not been well described in the literature. Reported findings shows hyperkeratosis, parakeratosis, acanthosis and predominance of chronic non specific inflammatory cells. , Diagnosis is based mainly on history, clinical and radiographic examination.
Other diseases such as acrodynia, hypophosphatasia, histiocytosis X, leukemia, cyclic neutropenia and Takaharas syndrome are associated with periodontitis and premature loss of teeth. PLS was differentiated from them by the presence of palmoplantar hyperkeratosis. PLS is also distinguished from keratoderma palmoplantaris of Unna Thos and Mal de Meleda More Details as the latter diseases are not associated with dental problems. Haim Munk syndrome was also considered for differential diagnosis but the peculiar findings of deformities of the fingers consisting of tapered, pointed phalangeal ends and claw like volar curves, pes planus and arachnodactly were not seen in these cases. 
A multidisciplinary approach is important for the patients with PLS. The conventional treatment of keratoderma was based on administration of anti inflammatory emollients and keratolytic agents such as topical steroids and salicylic acids. Oral retinoids including acitretin, etrinitate and isotritinoin are the mainstay of treatment of both the keratoderma and the periodontitis associated with PLS.  Etritinate is the ethyl ester of acitretin an aromatic retinoid related to both retinoic acid and retinol (Vitamin A) was reported to be effective in the treatment of various keratodermas.
The initial recommended dosage for of etritinate is 0.7 to 1 mg/kg/day for about 2-3 months followed by maintenance therapy of 0.4 to 0.5 mg/kg/day for 3 to 4 years. The majority of patients treated with etritinate showed a remarkable improvement or complete clearance of palmoplantar hyperkeratosis. Side effects encountered due to prolonged administration of etritinate are angular chelitis, dryness of the lips, hair loss, arthralgias, tenderness and ligamentous calcification and teratogenecity.
Several articles have been published on the treatment of periodontal component in PLS. In 1981, Bare and MacDonald proposed a mode of periodontal therapy for the patients with PLS as extraction of all the primary teeth by the age of 3-4 years, construction of a complete denture 3 months after removal of the primary teeth, therapeutic doses of tetracycline for 10 days after placement of the dentures, and adjustment of the denture base to allow for the emergence of the first permanent molars and incisors followed by another dose of tetracycline. , Many other studies showed that the use of an antibiotic adjunct with the conventional periodontal therapy i.e., plaque control, scaling and root planning, pocket reduction, oral hygiene instruction and chrolhexidine mouth wash were of minimal benefit or ineffective.  Use of tetracycline to stabilize periodontal inflammation and destructive periodontitis was based on its effectiveness against A. actinomycetoemcomitans and capnocytophaga. The dosage of tetracycline is 250 mg 4 times per day for 1 month. Eronat et al . found Amoxicillin plus clavolanic acid at a dosage of 1 gm/day for 10 days every 6 months to be more effective than tetracycline. Early extraction of teeth having poor prognosis too has been advocated to prevent bone loss. Moreover, this allows solid base for subsequent use of artificial dentures.
Usually the dental surgeons are the first to diagnose PLS because the severe periodontitis affecting the patients. These oral manifestations of PLS appear almost simultaneously with the onset of palmoplantar hyperkeratosis. The PLS debilitates the individual socially, psychologically and physically. Thus oral rehabilitation in such patients is a must.
Prosthetic replacement in PLS is age specific, specialty job involving initial replacement with complete or partial dentures with future considerations for implant supported prosthesis. Prosthetic rehabilitation provides a psychological boost up to the patient as well as to the parents by restoring not only the aesthetic appearance but also the function. 
In conclusion, 3 cases of PLS with classical features are presented to underline the pathogenesis, clinical manifestations and management of the disease. In these cases, maintenance of oral function and aesthetics is essential for normal psychological and physiological growth and development of the patient.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]