BACKGROUND: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive genetic disease. The primary defect is abnormal granule formation in the cells secondary to a mutation of a lysosomal trafficking regulator protein. CHS patients have immune system abnormalities, bleeding abnormalities, and multiple infections including periodontitis. METHODS: A 13-year-old African American male presented with severe gingival inflammation, generalized gingival bleeding, and tooth looseness. Comprehensive dental, medical and laboratory evaluations were performed. RESULTS: All teeth exhibited excessive mobility. The gingival tissues were swollen and bled easily. Most sites had probing depth in excess of 10 mm. Dental radiographs showed advanced generalized alveolar bone loss. Areas of skin depigmentation were noted. Blood smear showed presence of intracellular large granules in white blood cells. Platelet function was altered. Gingival histopathology showed an intense chronic inflammatory cell infiltrate and presence of numerous filamentous bacteria. Subgingival microbiological culture showed the presence of Porphyromonas gingvalis, Prevotella intermedia and Tannerella forsythia. Based on the periodontal, medical and laboratory findings a diagnosis of CHS was established. Because of the advanced periodontal condition and the risk of fatal bacterial infections, exodontias were performed. Because of platelet abnormalities the patient developed postoperative bleeding complications that required management with coagulation factor 7. CONCLUSIONS: Advanced periodontitis is an important symptom of CHS and may be the first step in the diagnosis of the condition. Due to the weakened immunity of CHS patients, periodontal management is usually unsuccessful. Tooth extractions are recommended to eliminate the periodontal problems and reduce the risk of fatal bacterial infections.
BACKGROUND:Chediak-Higashi syndrome (CHS) is a rare autosomal recessive genetic disease. The primary defect is abnormal granule formation in the cells secondary to a mutation of a lysosomal trafficking regulator protein. CHSpatients have immune system abnormalities, bleeding abnormalities, and multiple infections including periodontitis. METHODS: A 13-year-old African American male presented with severe gingival inflammation, generalized gingival bleeding, and tooth looseness. Comprehensive dental, medical and laboratory evaluations were performed. RESULTS: All teeth exhibited excessive mobility. The gingival tissues were swollen and bled easily. Most sites had probing depth in excess of 10 mm. Dental radiographs showed advanced generalized alveolar bone loss. Areas of skin depigmentation were noted. Blood smear showed presence of intracellular large granules in white blood cells. Platelet function was altered. Gingival histopathology showed an intense chronic inflammatory cell infiltrate and presence of numerous filamentous bacteria. Subgingival microbiological culture showed the presence of Porphyromonas gingvalis, Prevotella intermedia and Tannerella forsythia. Based on the periodontal, medical and laboratory findings a diagnosis of CHS was established. Because of the advanced periodontal condition and the risk of fatal bacterial infections, exodontias were performed. Because of platelet abnormalities the patient developed postoperative bleeding complications that required management with coagulation factor 7. CONCLUSIONS: Advanced periodontitis is an important symptom of CHS and may be the first step in the diagnosis of the condition. Due to the weakened immunity of CHSpatients, periodontal management is usually unsuccessful. Tooth extractions are recommended to eliminate the periodontal problems and reduce the risk of fatal bacterial infections.
Authors: V Thumbigere Math; P Rebouças; P A Giovani; R M Puppin-Rontani; R Casarin; L Martins; L Wang; K Krzewski; W J Introne; M J Somerman; F H Nociti; K R Kantovitz Journal: JDR Clin Trans Res Date: 2017-08-03