BACKGROUND: Papillon Lefevre syndrome (PLS) is an autosomal recessive disorder that results from a mutated gene that encodes a lysosomal peptidase known as cathepsin C (CTSC). The clinical presentation of PLS involves mainly palmoplantar keratosis and periodontitis with a variable degree of severity. SUBJECTS: and methods: Our study included ten patients with a broad spectrum of palmoplantar keratosis and periodontitis severity. CTSC variants were detected by Sanger sequencing. CTSC protein secreted in urine was detected by western blotting. RESULTS: Five patients have missense variants, Four have nonsense variants, and one has splice variants in CTSC. The activation products of cathepsin C protein (Heavy and light chains) were absent in all patients' urine samples except one with a significantly reduced level compared to the controls. The dimeric form of CTSC protein was found in all the studied cases. The monomeric form was found in five cases. The products of proteolytic activation of CTSC by other cathepsins (L and S) were found in the urine samples of five of the patients. Each patient had a characteristic pattern of accumulated CTSC protein maturation/activation substrates, intermediates, and products. 40% of the patients had the activation products of other lysosomal cathepsins. CONCLUSION: Urinary CTSC in PLS patients could be used as a diagnostic biomarker for the biochemical screening of the disease. Different variants in CTSC result in different profiles of CTSC secreted in the urine of PLS patients. The profiles of secreted CTSC in urine could be correlated to the severity of palmoplantar keratosis.
Papillon-Lefevre Disease , Periodontitis , Cathepsin C/genetics , Cathepsin C/metabolism , Cathepsins/genetics , Humans , Mutation , Papillon-Lefevre Disease/diagnosis , Papillon-Lefevre Disease/genetics
AIM: to investigate for the first time whether the regenerative approach can be used to rehabilitate a case with regional odontodysplasia (ROD). ROD is a rare, localized developmental anomaly of the dental tissues. Moreover, we review the various treatment protocols for ROD and compare them to the suggested regenerative protocol. CASE REPORT: A 22-year-old female patient diagnosed with ROD in the upper left quadrant was presented to our clinic. Initially, the affected teeth were extracted and three implants were inserted. A combination of autologous bone marrow mononuclear cells (BMMNCs) seeded on a collagen sponge, nanohydroxyapatite, and autologous platelet-rich fibrin (PRF) was used to enhance bone regeneration in the defective area and around the inserted implants. After 9 months, bone regeneration and successful osteointegration around the inserted implants were achieved, permitting the insertion of a fourth implant. After an additional six months, a final fixed restoration was constructed. CONCLUSION: The suggested regenerative approach provides a better treatment option for ROD patients to regenerate the lost bone, rehabilitate aesthetics, and restore normal function.
Odontodysplasia , Platelet-Rich Fibrin , Adult , Bone Regeneration , Female , Humans , Young Adult
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by early loss of teeth with hyperkeratosis of the palms and soles. Congenital insensitivity to pain with anhidrosis (CIPA) is a disorder of decreased pain sensation, decreased sweating, recurrent infections, and fever. Here, we report a 5-year-old girl born to consanguineous parents with a family history of a similarly affected sibling. The girl presented with early loss of teeth and palmoplantar hyperkeratosis, hence, provisionally diagnosed as PLS. Further clinical examination and detailed history taking shifted the diagnosis to CIPA. CIPA could be misdiagnosed as PLS. Congenital insensitivity to pain with anhidrosis, although rare, should be considered in the differential diagnosis of PLS.
