Papillon Lefevre syndrome--A series of two cases involving siblings with a review of literature

Authors: DR BASUDEV MAHATO, SNEHANJAN SARANGI, Abhishek Ghosh, Anjana Mazumdar

DOI: 10.18231/j.jds.10033.1485746081

Keywords: Papillon-Lefevre syndrome, Cathepsin C, Palmo-plantar keratosis, Periodontitis

Abstract: Papillon-Lefevre syndrome (PLS), a rare autosomal recessive disorder, was initially elucidated by Papillon and Lefevre in 1924. It is classically characterized by a combination of cutaneous and oral anomalies; cuateneous manifestations like gradual palmo-plantar keratosis and oral changes like variably progressive periodontitis, involving both deciduous and permanent dentitions are the hallmarks. Also, neurologic manifestations like falx cerebri calcifications and mental retardation occasionally have been reported. Mutation of Cathepsin C gene is held responsible for PLS. The dermatologic lesions are managed with retinoids, along with corticosteroids and/or topical antibiotics. The oral lesions are controlled thorough optimal oral hygiene measures, prophylaxis, antibiotic usage, and extraction of the affected mobile teeth in severe instances. Herein, we describe a case series comprising of two cases of PLS involving siblings- a brother and an elder sister, with an emphasis regarding their relevant diagnostic aspects.