Sharma Ankit, Ingole Snehal N, Deshpande Mohan D, Kazi Noaman, Meshram Deepashree, Ranadive Pallavi
Department of Oral and Maxillofacial Surgery, RR Dental College and Hospital, Udaipur, Rajasthan, India.
Department of Oral and Maxillofacial Surgery, Nair Hospital Dental College, Mumbai, Maharashtra, India.
Int J Clin Pediatr Dent. 2020 Nov-Dec;13(6):717-721. doi: 10.5005/jp-journals-10005-1835.
Osteopetrosis (OP) is a group of rare genetic bone disorders. Osteoclast-poor form of osteopetrosis is much rarer in humans and represents a small percentage of the total cases of autosomal recessive osteopetrosis presenting with impaired bone remodeling due to defective osteoclastic activity and is characterized by distinctive increase in bone density and high bone fragility. Reduction in marrow spaces with decreased vasculature to the bone owing to increased bone mass makes the bones vulnerable for varied infections resulting in osteomyelitis. This case report discusses challenges in management of recalcitrant osteomyelitis of mandible developed as a complication in an 8-year-old girl child identified with rare, dual heterozygous mutations in RANKL () gene and gene with uncertain significance responsible for osteoclast-poor osteopetrosis and Classic Ehlers-Danlos, respectively.
Sharma A, Ingole SN, Deshpande MD, A Rare Case of Osteoclast-poor Osteopetrosis (RANKL Mutation) with Recurrent Osteomyelitis of Mandible: A Case Report. Int J Clin Pediatr Dent 2020;13(6):717-721.
骨硬化症（OP）是一组罕见的遗传性骨疾病。破骨细胞缺乏型骨硬化症在人类中更为罕见，在常染色体隐性骨硬化症的所有病例中占比很小，其特征是由于破骨细胞活性缺陷导致骨重塑受损，表现为骨密度显著增加和高骨脆性。由于骨量增加，骨髓腔减少，骨的血管系统减少，使骨骼易受各种感染，导致骨髓炎。本病例报告讨论了一名8岁女童因罕见的RANKL（）基因双杂合突变和意义不明的基因分别导致破骨细胞缺乏型骨硬化症和经典型埃勒斯-当洛综合征，并发下颌骨顽固性骨髓炎的治疗挑战。
夏尔马A、因戈尔SN、德什潘德MD，《一例罕见的破骨细胞缺乏型骨硬化症（RANKL突变）合并下颌骨复发性骨髓炎病例报告》。《国际临床儿科牙科学杂志》2020年；13（6）：717 - 721。
