papillon - lefevre syndrome belongs to a heterogeneous group of skin diseases that are characterized by hyperkeratosis of palms and soles . papillon - lefevre syndrome is inherited as an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early loss of primary and permanent teeth . papillon - lefevre syndrome differs from other types of palmoplantar keratoderma in its severe periodontopathy and premature loss of primary and permanent dentition . papillon - lefevre syndrome was first described in 1924 by papillon m m and lefevre p in two siblings . fifty percent of the patients with papillon - lefevre syndrome appear to have been derived from consanguineous marriages . hart et al . , showed that mutations of cathepsin c gene are responsible for papillon - lefevre syndrome and a region of chromosomes ( 11q14 - 21 ) is responsible for this . an 18-year - old boy reported to the department of periodontology and implant dentistry , bharati vidyapeeth university dental college and hospital , navi - mumbai for the treatment of generalized mobility of teeth and bleeding gums . scaly skin lesions began to appear by third year of age , later fissures appeared on palms and soles . intense itching was noted and skin lesions went on to involve fingers , knees and elbows . patient showed bilateral hyperkeratosis of palms , soles , dorsal surface of fingers and knees [ figures 1 and 2 ] . intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade ii mobility . hyperkeratosis of palms and soles - case 1 hyperkeratosis of knees - case 1 intra - oral view - maxilla - case 1 intra - oral view - mandible - case 1 this patient too showed considerable hyperkeratosis of palms and soles [ figure 6 ] . orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds [ figures 79 ] . hyperkeratosis of palms and soles - case 2 intra - oral view - maxilla - case 2 intra - oral view - mandible - case 2 complete blood count , serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits . on the basis of history , thorough scaling and root planing of all teeth was carried out along with administration of systemic antibiotics . patient showed bilateral hyperkeratosis of palms , soles , dorsal surface of fingers and knees [ figures 1 and 2 ] . intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade ii mobility . hyperkeratosis of palms and soles - case 1 hyperkeratosis of knees - case 1 intra - oral view - maxilla - case 1 intra - oral view - mandible - case 1 this patient too showed considerable hyperkeratosis of palms and soles [ figure 6 ] . orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds [ figures 79 ] . hyperkeratosis of palms and soles - case 2 intra - oral view - maxilla - case 2 intra - oral view - mandible - case 2 complete blood count , serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits . on the basis of history , patient showed bilateral hyperkeratosis of palms , soles , dorsal surface of fingers and knees [ figures 1 and 2 ] . intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade ii mobility . hyperkeratosis of palms and soles - case 1 hyperkeratosis of knees - case 1 intra - oral view - maxilla - case 1 intra - oral view - mandible - case 1 orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds [ figures 79 ] . hyperkeratosis of palms and soles - case 2 intra - oral view - maxilla - case 2 intra - oral view - mandible - case 2 complete blood count , serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits . on the basis of history , thorough scaling and root planing of all teeth was carried out along with administration of systemic antibiotics . papillon - lefevre syndrome is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressive periodontitis . skin lesions develop concurrently with oral lesions and may extend to dorsal surfaces of hands and feet . another form of disease associated with palmoplantar keratosis and severe aggressive periodontitis has been named haim - munk syndrome . it differs from papillon - lefevre syndrome in symptoms such as arachnodactyly , acroosterolysis and onychogryphosis . in papillon - lefevre syndrome the permanent dentition starts to erupt at proper time , but around 8 - 9 years of age periodontal destruction is repeated in the same manner as in primary dentition . all permanent teeth are usually lost before 14 - 16 years of age . in subjects with papillon - lefevre syndrome the exact biochemical defect leading to periodontal disease is still unclear . in 1942 , wannenmacher suggested that papillon - lefevre syndrome was due to a combination of ecto and mesodermal malformations . suggested that a functional imbalance of collagenolytic activity in the periodontal ligament was responsible for periodontitis in papillon - lefevre syndrome . in 1984 , vandyke suggested that neutrophils from an individual with papillon - lefevre syndrome exhibit decreased receptor affinity for chemotaxins such as formyl peptides . papillon - lefevre syndrome is associated with myeloperoxide deficiency , low integrin expression , defective phagocytosis and chemotaxis . hattab et al . , reported four cases of papillon - lefevre syndrome affecting two jordanian families with eight children . in all patients there was a relationship between increased severity of skin lesions and seasonal variations and intensified periodontal destruction . lass et al . in three multiplex families , one ethiopian and two german , demonstrated linkage of papillon - lefevre syndrome with chromosome 11q13-q14 . fischer et al . , conducted a primary genome wide search by homozygosity mapping in a large consanguineous family with four affected siblings . toomes et al . , showed that in patients with papillon - lefevre syndrome gene for cathepsin c which lies in chromosome 11 had undergone mutation resulting in decreased cathepsin c production . hart et al . , reported mutations in cathepsin c gene in patients with papillon - lefevre syndrome from five different countries . in conclusion , we have reported two cases of papillon - lefevre syndrome . further studies in the field of microbiology and genetics are necessary to find the exact cause of periodontal destruction in such patients , so that best possible dental treatment can be rendered to them . in subjects with papillon - lefevre syndrome there is defective cathepsin c production . the gene for cathepsin c lies on chromosome 11 . the exact biochemical defect leading to periodontal disease is still unclear . in 1942 , wannenmacher suggested that papillon - lefevre syndrome was due to a combination of ecto and mesodermal malformations . suggested that a functional imbalance of collagenolytic activity in the periodontal ligament was responsible for periodontitis in papillon - lefevre syndrome . in 1984 , vandyke suggested that neutrophils from an individual with papillon - lefevre syndrome exhibit decreased receptor affinity for chemotaxins such as formyl peptides . papillon - lefevre syndrome is associated with myeloperoxide deficiency , low integrin expression , defective phagocytosis and chemotaxis . hattab et al . , reported four cases of papillon - lefevre syndrome affecting two jordanian families with eight children . in all patients there was a relationship between increased severity of skin lesions and seasonal variations and intensified periodontal destruction . lass et al . in three multiplex families , one ethiopian and two german , demonstrated linkage of papillon - lefevre syndrome with chromosome 11q13-q14 . fischer et al . , conducted a primary genome wide search by homozygosity mapping in a large consanguineous family with four affected siblings . . toomes et al . , showed that in patients with papillon - lefevre syndrome gene for cathepsin c which lies in chromosome 11 had undergone mutation resulting in decreased cathepsin c production . hart et al . , reported mutations in cathepsin c gene in patients with papillon - lefevre syndrome from five different countries . in conclusion , further studies in the field of microbiology and genetics are necessary to find the exact cause of periodontal destruction in such patients , so that best possible dental treatment can be rendered to them .
papillon - lefevre syndrome is a rare ( 1 - 4 cases per million ) autosomal recessive disorder showing predominantly oral and dermatological manifestations in the form of aggressive periodontitis affecting both primary and permanent dentition and palmoplantar hyperkeratosis . 
 genetic studies have shown that mutations in the major gene locus of chromosome 11q14 with loss of function of cathepsin c gene are responsible for papillon - lefevre syndrome . 
 this report presents two siblings with classic signs and symptoms of papillon - lefevre syndrome . 
 the exact cause for periodontal destruction in patients with papillon - lefevre syndrome is not known but it is thought to be due to defect in neutrophil function , immune suppression and mutations in cathepsin c gene .