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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Jaypee Brothers Medical Publishers
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8060946/ https://www.ncbi.nlm.nih.gov/pubmed/33976500 http://dx.doi.org/10.5005/jp-journals-10005-1835 |
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author | Sharma, Ankit Ingole, Snehal N Deshpande, Mohan D Kazi, Noaman Meshram, Deepashree Ranadive, Pallavi |
author_facet | Sharma, Ankit Ingole, Snehal N Deshpande, Mohan D Kazi, Noaman Meshram, Deepashree Ranadive, Pallavi |
author_sort | Sharma, Ankit |
collection | PubMed |
description | 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. HOW TO CITE THIS ARTICLE: Sharma A, Ingole SN, Deshpande MD, et al. 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. |
format | Online Article Text |
id | pubmed-8060946 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Jaypee Brothers Medical Publishers |
record_format | MEDLINE/PubMed |
spelling | pubmed-80609462021-05-10 A Rare Case of Osteoclast-poor Osteopetrosis (RANKL Mutation) with Recurrent Osteomyelitis of Mandible: A Case Report Sharma, Ankit Ingole, Snehal N Deshpande, Mohan D Kazi, Noaman Meshram, Deepashree Ranadive, Pallavi Int J Clin Pediatr Dent 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 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. HOW TO CITE THIS ARTICLE: Sharma A, Ingole SN, Deshpande MD, et al. 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. Jaypee Brothers Medical Publishers 2020 /pmc/articles/PMC8060946/ /pubmed/33976500 http://dx.doi.org/10.5005/jp-journals-10005-1835 Text en Copyright © 2020; Jaypee Brothers Medical Publishers (P) Ltd. https://creativecommons.org/licenses/by-nc/4.0/© The Author(s). 2020 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by-nc/4.0/), which permits unrestricted use, distribution, and non-commercial reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Sharma, Ankit Ingole, Snehal N Deshpande, Mohan D Kazi, Noaman Meshram, Deepashree Ranadive, Pallavi A Rare Case of Osteoclast-poor Osteopetrosis (RANKL Mutation) with Recurrent Osteomyelitis of Mandible: A Case Report |
title | A Rare Case of Osteoclast-poor Osteopetrosis (RANKL Mutation) with Recurrent Osteomyelitis of Mandible: A Case Report |
title_full | A Rare Case of Osteoclast-poor Osteopetrosis (RANKL Mutation) with Recurrent Osteomyelitis of Mandible: A Case Report |
title_fullStr | A Rare Case of Osteoclast-poor Osteopetrosis (RANKL Mutation) with Recurrent Osteomyelitis of Mandible: A Case Report |
title_full_unstemmed | A Rare Case of Osteoclast-poor Osteopetrosis (RANKL Mutation) with Recurrent Osteomyelitis of Mandible: A Case Report |
title_short | A Rare Case of Osteoclast-poor Osteopetrosis (RANKL Mutation) with Recurrent Osteomyelitis of Mandible: A Case Report |
title_sort | rare case of osteoclast-poor osteopetrosis (rankl mutation) with recurrent osteomyelitis of mandible: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8060946/ https://www.ncbi.nlm.nih.gov/pubmed/33976500 http://dx.doi.org/10.5005/jp-journals-10005-1835 |
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