Year : 2008 | Volume
: 26 | Issue : 2 | Page : 78--81
Papillon-Lefevre syndrome: Report of two cases in the same family
NB Nagaveni, R Suma, ND Shashikiran, VV Subba Reddy
Department of Pedodontics, College of Dental Sciences, Davangere - 577 004, Karnataka, India
N B Nagaveni
Department of Pedodontics, College of Dental Sciences, Davangere - 577 004, Karnataka
Papillon-Lefevre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis, leading to premature loss of both primary and permanent dentitions. Various etiopathogenic factors are associated with the syndrome but a recent report has suggested that the condition is linked to mutations of the cathepsin C gene. Two cases of Papillon-Lefevre syndrome in the same family, having all of the characteristic features, are presented. An 11-year-old girl and a 9-year-old boy presented with the complaints of loose teeth. Both expressed hyperkeratosis of palms, soles, and knees. Severe generalized periodontal destruction, with mobility of teeth, was evident on intraoral examination; orthopantomograph examination showed severe generalized loss of alveolar bone in both the patients.
|How to cite this article:|
Nagaveni N B, Suma R, Shashikiran N D, Subba Reddy V V. Papillon-Lefevre syndrome: Report of two cases in the same family.J Indian Soc Pedod Prev Dent 2008;26:78-81
|How to cite this URL:|
Nagaveni N B, Suma R, Shashikiran N D, Subba Reddy V V. Papillon-Lefevre syndrome: Report of two cases in the same family. J Indian Soc Pedod Prev Dent [serial online] 2008 [cited 2021 Jan 25 ];26:78-81
Available from: https://www.jisppd.com/text.asp?2008/26/2/78/41622
Papillon-Lefevre syndrome (PLS) [OMIM 245000] was first described by Papillon and Lefevre in 1924.  The clinical manifestations include palmoplantar hyperkeratosis, with a precocious, rapidly progressive periodontal disease that results in premature exfoliation of primary and permanent dentitions.  Gorlin et al . have suggested that calcification of the dura mater is a third component of the syndrome. 
The prevalence of PLS is 1-4 per million individuals with no sex predilection and no racial predominance. A genetic predisposition, with greater frequency of occurrence in consanguineous offspring, has been reported. 
In PLS, the eruption of primary teeth occur at the expected ages and in the normal sequence, with the teeth being of normal form and structure. Eruption of the primary dentition into the oral cavity is accompanied by severe gingival inflammation and a generalized aggressive periodontitis, resulting in tooth mobility. By the age 4 or 5 years, the primary teeth frequently become loose and exfoliate. After exfoliation of the primary dentition, the gingival inflammation resolves. As the permanent teeth erupt, the same sequence of events recur and, without intervention, most of the permanent teeth are lost by 15-17 years of age.  Severe resorption of alveolar bone gives the teeth a 'floating-in-air' appearance on dental radiographs. , Palmoplantar keratosis, varying from mild psoriasiform scaly skin to overt hyperkeratosis, is characteristic, but the keratosis may also affects other sites, such as the elbows and knees. 
An 11-year-old girl (case 1) and her brother, an 9-year-old boy (case 2), reported to the Department of Pedodontics, College of Dental Sciences, Davangere, complaining of loose teeth and discomfort in chewing. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Pregnancy and delivery were normal. The mother had noticed skin lesions on the palms and soles of the children when they were 5 months old.
On general examination, both the patients had overall normal physical and mental development. Extraoral examination revealed hyperkeratosis of the palms, soles, and the knees of both the limbs; the affected skin was well demarcated from adjacent normal skin in both the cases [Figure 1],[Figure 2],[Figure 3],[Figure 4].
Case 1 had permanent dentition with severe gingival inflammation, abscess formation, and deep periodontal pockets. Severe mobility affecting all the teeth, with heavy deposits of plaque and calculus and halitosis, were also present [Figure 5].
Case 2 showed centrals, left lateral, and first molars in the upper arch and centrals, laterals, and first molars in the lower arch. Deep periodontal pockets, gingival inflammation, and mobility of these teeth were evident [Figure 6]. All primary teeth were exfoliated.
Case 1 showed severe generalized destruction of alveolar bone. The mandibular right first molar was almost entirely out of its socket and was without bone support [Figure 7]. Case 2 showed generalized loss of alveolar bone [Figure 8].
On lateral cephalogram, there was no evidence of intracranial calcification in both the patients [Figure 9] and [Figure 10].
Laboratory investigation was carried out, which included hematological and biochemical assessment. The results were within normal limits.
In view of the above findings, the cases were diagnosed as PLS.
Treatment by extraction of all teeth, followed by complete denture fabrication for case 1 and partial denture for case 2 was planned to restore masticatory function.
PLS can adversely affect growing children psychologically, socially, and esthetically. Hence, early dental evaluation and parental counseling as a part of preventive dental treatment is essential for providing complete psychosocial rehabilitation for PLS children; a multidisciplinary approach may improve the prognosis and quality of life of these children.
Although the exact pathogenesis of this syndrome remains relatively obscure, immunologic, microbiologic, and genetic bases have been proposed. Microbiological studies have demonstrated Actinobacillus actinomycetemcomitans , Porphyromonas gingivalis , Fusobacterium nucleatum , and Treponema denticola organisms, suggesting that many pathogens may be involved in the disease process.  Previous case reports and studies have reported that A. actinomycetemcomitans plays a significant role in the pathogenesis and progression of the rapid periodontal breakdown seen in PLS. ,,,
A decreased chemotactic and phagocytic function of neutrophils has also been suggested.  Recent research has shown that inactivation of the cathepsin C gene is responsible for the abnormalities in skin development and periodontal disease progression.  These various factors contributing to the etiopathogenesis of this disease ensure that successful treatment of the rapid periodontal destruction seen in this syndrome remains a challenging problem.
In our cases, genetic testing could not be performed to identify the gene mutation because of the low economic status of the parents, but the dermatological, periodontal, and radiological features strongly suggested the diagnosis of PLS. Moreover, consanguineous descent has been described for this syndrome,  and the two cases reported here were also associated with consanguinity of parents. Phenotypically, the parents were healthy and there was no family history of the disease, suggesting an autosomal recessive pattern of inheritance.
The differential diagnoses include Hiam-Munk syndrome and hypophosphatasia. Hiam-Munk syndrome also exhibits arachnodactly, acroosteolysis, atrophy of nails, and deformity of the phalanges in the hands.  None of these features were found in the present cases. In hypophosphatasia, deficiency of alkaline phosphatase activity is seen,  but in our cases the values were within normal limits and therefore this differential diagnosis could be excluded.
A definite treatment regime is not yet reported; however, to control periodontal destruction, several treatment modalities have been suggested, e.g., conventional periodontal therapy, oral hygiene instructions, and systemic antibiotics.  Further research is required for defining a treatment strategy that can save the smiles of these children.
Identification of specific periodontal pathogens and antibiotic therapy appropriate to these microorganisms, along with extraction of severely periodontally compromised teeth, can prolong the viability of nonaffected teeth. Newer therapeutic modalities involve the use of oral retinoids, such as acitretin and isotretinoin. , In the future, stem cell therapy can be expected to open up new vistas in the dental treatment of such children.
PLS threatens children and their parents with the prospect of edentulism if left untreated. Hence, early diagnosis and intervention is essential. For edentulous patients, oral rehabilitation is required; this includes partial or complete denture prosthetic replacement (according to the age of the patient). Osseointegrated implants are an option for the future and can have a great impact psychosocially by restoring esthetics as well as function.The pediatric dentist is the first member of the health team to see and treat children afflicted with unusual syndromes such as PLS and, therefore, awareness of this syndrome is essential if the dentist is to provide appropriate and comprehensive dental care. In addition, greater awareness of this syndrome will be helpful in identifying more cases for further study.
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