A Rare Case of Osteoclast-poor Osteopetrosis (RANKL Mutation) with Recurrent Osteomyelitis of Mandible: A Case Report

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...

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Published in:International journal of clinical pediatric dentistry 2020-11, Vol.13 (6), p.717-721
Main Authors: Sharma, Ankit, Ingole, Snehal N, Deshpande, Mohan D, Kazi, Noaman, Meshram, Deepashree, Ranadive, Pallavi
Format: Article
Language:English
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Case Report
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Summary: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 ( TNFSF11 ) gene and COL5A1 gene with uncertain significance responsible for osteoclast-poor osteopetrosis and Classic Ehlers-Danlos, respectively.
ISSN:0974-7052
0975-1904
DOI:10.5005/jp-journals-10005-1835