Year : 2008 | Volume
: 19 | Issue : 3 | Page : 264--266
Partial expression of Papillon-Lefèvre Syndrome
Shaila V Kothiwale, Setu Mathur
Department of Periodontics, KLES'S Institute of Dental Sciences, Belgaum, India
Shaila V Kothiwale
Department of Periodontics, KLES«SQ»S Institute of Dental Sciences, Belgaum
Papillon-Lefθvre Syndrome (PLS) is a rare autosomal recessive trait, which is transmitted with an estimated frequency of one to four per million individuals. It is characterized by palmar plantar keratosis and severe early-onset periodontitis affecting both deciduous and permanent dentition. In this report, we present clinical, microbiological and leukocyte function test findings of a thirty-five year-old patient with symptoms typical of Papillon-Lefθvre Syndrome except for premature loss of deciduous and permanent dentition. The patient exhibited palmar plantar keratosis and an isolated, moderately deep periodontal pocket in the third quadrant. No anaerobic bacteria were isolated from the plaque culture. The neutrophil function test revealed defective chemotaxis and phagocytosis while intracellular killing and respiratory burst were normal.
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Kothiwale SV, Mathur S. Partial expression of Papillon-Lefèvre Syndrome.Indian J Dent Res 2008;19:264-266
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Kothiwale SV, Mathur S. Partial expression of Papillon-Lefèvre Syndrome. Indian J Dent Res [serial online] 2008 [cited 2020 Jul 16 ];19:264-266
Available from: http://www.ijdr.in/text.asp?2008/19/3/264/42963
Papillon-Lefèvre Syndrome (PLS) was first described by Papillon and Lefevre in 1924 as a condition characterized by hyperkeratosis of the palms and soles combined with severe periodontitis, leading to premature loss of deciduous and permanent dentition.  Other features associated with but not considered to define PLS, include hyperkeratotic patches over the elbows and knees, intracranial ectopic calcification, susceptibility to infections, retardation and arachnodactyly. ,
The pathogenesis of PLS is still enigmatic. While the skin lesions were thought to derive from a combination of ecto- and mesodermal malformations, there has never been any explanation for the cause or the rapidity of the loss of all teeth in the order of their eruption. Two new aspects of PLS have been discovered. Firstly, some PLS patients were found to exhibit either a cellular immune defect with a decreased PHA (phytohemagglutinin) stimulation of lymphocytes or deficient chemotaxis and phagocytic function of neutrophilic granulocytes.  Secondly, an association of gram-negative anaerobic rods such as Bacteroides gingivalis, Actinobacillus actinomycetemcomitans and Capnocytophaga and spirochetes has been observed. 
The prevalence of fully expressed PLS is one to four per million persons, which rarely includes partially expressed variant case. In this report, we present clinical, microbiological and leukocyte function test findings of a patient with only partial expression of the cardinal features of PLS and who presented to the Department of Periodontics during September 2005. The purpose of this report is to add to the existing database of cases of partially expressed variants of PLS which exhibit many of the criteria that are consistent with PLS.
A 35 year-old male patient reported to the Department of Periodontics with the chief complaint of dirty teeth. On general examination, his hands and feet revealed hyperkeratosis that he described as pruritic [Figure 1],[Figure 2],[Figure 3],[Figure 4]. The first sign of disease occurred on the soles of the feet at approximately 4-5 years of age and which spread to involve the entire plantar surface. At approximately 5-6 years of age, the palmar surface became involved. The patient reported that the lesion remained refractory to any therapy administered by the dermatologist.
Dental history indicated normal eruption and exfoliation of deciduous teeth along with normal eruption of permanent teeth. Intraoral examination showed healthy periodontal tissue with a moderate periodontal pocket of 5 mm in size in the region of 36 with mild gingival bleeding. There was a mild amount of plaque and stains present on his teeth. There was no history of consanguinity between his parents nor did his siblings have similar disease manifestations.
The anaerobic culture of the plaque sample yielded E. coli and Streptococcus mitis but no other anaerobic microflora was isolated from the plaque sample.
Neutrophil function test
Results of the tests performed on neutrophils collected from the peripheral blood sample of the patient are summarized in the [Table 1]. Phagocytosis of Candida albicans was found to be defective with the mean particle number (MPN) of ingested Candida being equal to 3 (normal MPN = 5). Also, generation of chemotactic activity of neutrophilic granulocytes suspended in patient's serum by using casein was found to be defective, yielding a value of 95 μm/75 min (normal range 110-180 μm/75 min).
However, no defect was detected by the nitroblue tetrazolium (NBT) reduction assay, which indicates normal respiratory burst and intracellular killing of Candida albicans.
The patient underwent thorough ultrasonic scaling and curettage in the third quadrant with respect to 36 and responded favorably to the treatment.
Contrary to the definition of PLS, there is no evidence of affected deciduous or permanent dentition in this case report. PLS has been described as an autosomal recessive hereditary disease. We consider this case as an autosomal recessive inheritance as both parents are phenotypically healthy and other siblings are not affected. However, there are several questions with no clear answer. A multitude of etiological factors appear to be involved in the causation of PLS. As it is now known that PLS is caused by the mutation of the cathepsin C gene, which is expressed in the commonly affected epithelial regions such as the palms, soles and knees. It is also expressed at high levels in immune cells including PMN cells and macrophages, hence, leading to the expectation that there will be a defect in PMN cell function associated with PLS although alteration of PMN cellular function has not been observed in all cases. 
Our patient's test report indicated normal respirtory burst and intracellular killing while there was defective chemotaxis and phagocytosis of the neutrophilic granulocytes. Usually, defective PMN chemotaxis and phagocytosis shows periodontal destructive symptoms. In this case, there was an isolated periodontal pocket with respect to only 36 and temporary and permanent dentition was not affected. Thus, the PMN function does not appear to be related to the periodontal disease.  Few case reports have revealed a recovery of PMN activity to normal levels after treatment. 
Microbiological culture indicated the presence of E. coli and Streptococcus mitis but no other anaerobic microbiota. Except for the isolated periodontal pocket, the otherwise healthy periodontal tissue can be linked to good oral hygiene maintenance and absence of specific periodontopathic microflora.
PLS is an autosomal recessive disorder, presumed to result in individuals homozygous for the disease locus. Allelic heterozygocity will account for the clinical variability observed in the present case, as consanguinity was absent between the parents. The present case was orally asymptomtic but dermatologically affected. This discordant expression observed suggests several possible genetic etiologies. As PLS is an autosomal recessive trait, it is presumed to result in individuals homozygous for the disease locus but disease alleles may not be identical.
Variable clinical expression of single gene mutations is known to occur (e.g., ectodermal dysplasia) and this may occur due to epistatic interaction between a disease gene and other modifying genes.  This could occur in PLS and result in partial expression of the syndrome.
The clinical presentation of PLS is variable and the disease occurs so infrequently as to limit the cases for study. The existence of variants and other variations in the expression of PLS invites further investigations to clarify the etiopathogenesis of this disease and its possible genetic link.
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