Papillon-Lefevre syndrome: Report of two cases in the same family.
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.
Nagaveni
N B
NB
Department of Pedodontics, College of Dental Sciences, Davangere - 577 004, Karnataka, India. nagavenishankar@indiatimes.com
Suma
R
R
Shashikiran
N D
ND
Subba Reddy
V V
VV
D016301:Alveolar Bone Loss / Q000150:complications*; D002648:Child; D002657:Child Development; D005260:Female; D006801:Humans; D008297:Male; D010214:Papillon-Lefevre Disease / Q000150:complications* / Q000503:physiopathology; D010510:Periodontal Diseases / Q000150:complications*; D035781:Siblings; D016388:Tooth Loss / Q000150:complications*