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

Sharma, Ankit; Ingole, Snehal; Deshpande, Mohan; Kazi, Noaman; Meshram, Deepashree; Ranadive, Pallavi

doi:10.5005/jp-journals-10005-1835

Cited by 7 publications

(6 citation statements)

References 9 publications

(2 reference statements)

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“…Hyperbaric oxygen enhances bone health, while phenytoin aids tissue/bone healing. Patients affected by osteomyelitis associated with these factors often exhibit limited bone wound healing capabilities due to altered osteoclastic activity 13. In our patient’s case, acute inflammation exhibited transient alleviation through repeated irrigation and antibiotic administration.…”

Section: Discussionmentioning

confidence: 70%

Maxillary osteomyelitis in a young female with osteopetrosis: unveiling an uncommon connection

Chawla,

Yerragudi,

Arumulla

et al. 2023

BMJ Case Rep

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Osteopetrosis encompasses a spectrum of conditions marked by heightened bone density due to faulty osteoclast-mediated bone resorption, leading to an accumulation of immature bone and thickened cortical structures. This condition gives rise to bone fragility, blood cell irregularities, nerve entrapment and growth challenges, all stemming from disrupted bone remodelling. Craniofacial distinctiveness, encompassing anomalies in the skull and jaw, is a frequent occurrence. Osteopetrosis presents a range of clinical signs, including facial and dental anomalies. The diagnostic process involves thorough clinical and radiological assessments, often obviating the need for genetic testing. Interestingly, few prior reports have delved into the specifics of craniofacial and dental issues in osteopetrosis. The presented case showcases rare occurrence of maxillary osteomyelitis. The diagnosis was established through a combination of history, clinical, radiographic and laboratory findings. The patient declined surgical intervention, leading to the implementation of conservative management involving regular irrigation alongside systemic antibiotic therapy.

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Section: Discussionmentioning

confidence: 70%

Maxillary osteomyelitis in a young female with osteopetrosis: unveiling an uncommon connection

Chawla,

Yerragudi,

Arumulla

et al. 2023

BMJ Case Rep

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“…However, osteomyelitis subsequently appeared in other sites in a sequential manner. There are few published reports concerning the successful treatment of osteomyelitis in children [ 20 , 21 , 22 , 23 , 24 ]. Surgical intervention with drug therapy (i.e., systemic administration of antibacterial agents) is often used to manage osteomyelitis [ 6 , 22 , 23 , 24 ].…”

Section: Discussionmentioning

confidence: 99%

“…There are few published reports concerning the successful treatment of osteomyelitis in children [ 20 , 21 , 22 , 23 , 24 ]. Surgical intervention with drug therapy (i.e., systemic administration of antibacterial agents) is often used to manage osteomyelitis [ 6 , 22 , 23 , 24 ]. Local sequestrectomy of the affected region is sometimes performed [ 12 , 16 , 20 ].…”

Section: Discussionmentioning

confidence: 99%

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Osteomyelitis Possibly Caused by Exfoliation of Primary Teeth in a Patient with Osteopetrosis

et al. 2022

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Osteopetrosis is a rare inherited skeletal disease characterized by increased density in the bones and can be detected by radiographs. Sclerosis makes the jaw bones extremely susceptible to infections, osteomyelitis, and fractures. Here, we report a case of osteomyelitis possibly caused by spontaneous exfoliation of primary teeth in a patient with osteopetrosis. A 2 years and 9 months (2Y9M)-old boy with osteopetrosis was referred to our clinic for oral management. Only four primary central incisors had erupted, and they all exhibited hypoplasia. The mandibular right central primary incisor suddenly became exfoliated at 4 years and 1 month. The mandibular right lateral primary incisor also became exfoliated at 4 years and 3 months, soon after eruption, and the mandibular left central primary incisor became exfoliated at 4 years and 5 months. Subsequently, we confirmed the eruption of calcified tissue at 4 years and 9 months in the location where the mandibular right lateral primary incisor had become exfoliated. The patient was admitted to the pediatrics clinic for mandibular cellulitis at 5 years and 2 months, then referred to our clinic for the management of osteomyelitis. The patient’s acute inflammation was reduced by repeated irrigation and the administration of antibiotics; the inflammation gradually became chronic. When treating patients with osteopetrosis, dentists and oral surgeons should prioritize infection control in the jaw, periodic assessment of dental eruption, and the maintenance of oral hygiene.

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“…Its common clinical features include hepatosplenomegaly, increased bone density throughout the body, thickened bone cortices, such as of the spine, leg bones, and pelvis, and being prone to fractures. In addition, Sharma et al [ 33 ] reported on a patient with hydrocephalus in the brain, blindness in the left eye, facial bone sclerosis, and facial deformity. OPTB2 has typical craniofacial deformities, including a forehead bulge, increased head circumference, skull base hardening or thickening, mandibular prognathism, facial deformity, and osteomyelitis of the jaw.…”

Section: Genotype and Clinical Phenotype Of Osteopetrosismentioning

confidence: 99%

Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis

Duan

2023

IJMS

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Osteopetrosis is a group of genetic bone disorders characterized by increased bone density and defective bone resorption. Osteopetrosis presents a series of clinical manifestations, including craniofacial deformities and dental problems. However, few previous reports have focused on the features of craniofacial and dental problems in osteopetrosis. In this review, we go through the clinical features, types, and related pathogenic genes of osteopetrosis. Then we summarize and describe the characteristics of craniofacial and dental abnormalities in osteopetrosis that have been published in PubMed from 1965 to the present. We found that all 13 types of osteopetrosis have craniomaxillofacial and dental phenotypes. The main pathogenic genes, such as chloride channel 7 gene (CLCN7), T cell immune regulator 1 (TCIRG1), osteopetrosis-associated transmembrane protein 1 (OSTM1), pleckstrin homology domain-containing protein family member 1 (PLEKHM1), and carbonic anhydrase II (CA2), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed. We conclude that the telltale craniofacial and dental abnormalities are important for dentists and other clinicians in the diagnosis of osteopetrosis and other genetic bone diseases.

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

Cited by 7 publications

References 9 publications

Maxillary osteomyelitis in a young female with osteopetrosis: unveiling an uncommon connection

Maxillary osteomyelitis in a young female with osteopetrosis: unveiling an uncommon connection

Osteomyelitis Possibly Caused by Exfoliation of Primary Teeth in a Patient with Osteopetrosis

Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis

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