Positive Outcomes of Denosumab Treatment in 2 Patients With Cherubism

Droma, Eitan Bar; Rosen, Guy Beck; Ilgiyaev, Anatoly; Fruchtman, Yariv; Abramovitch-Dahan, Chen; Levaot, Noam; Givol, Navot

doi:10.1016/j.joms.2020.06.016

Cited by 9 publications

(13 citation statements)

References 21 publications

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“…The 14 included studies were mostly case reports. The studies were conducted in Brazil ( 26 ), Cyprus ( 27 ), France ( 28 ), Finland ( 29 ), Israel ( 30 ), Italy ( 31 ), Japan ( 32 ), the Netherlands ( 33 ), Russia ( 34 ), Turkey ( 35 ), United Kingdom ( 36 , 37 ), United States of America ( 38 , 39 ). All studies were in English.…”

Section: Resultsmentioning

confidence: 99%

“…The cherubism patients were from different ethnic origins (Caucasian (7 patients - 38,9%), Black (3 patients – 16,7%) or Asian (2 patients – 11,1%)), even if for 6 of them nothing was specified. Two patients were reported to be twins: one was a fraternal twin (with the brother having minor signs of cherubism) ( 30 ) and for the other the twin-type was not specified ( 31 ). Of the 18 patients, six (33.3%) were treated with denosumab, seven (38.9%) with various immune/inflammatory modulating drugs, and five (27.8%) with calcitonin.…”

Section: Resultsmentioning

confidence: 99%

“…For seven patients (38.9%), a familial history of cherubism was mentioned. In the 18 patients, two were sisters ( 30 ) and two were cousins ( 39 ). We decided to include cherubism patients with or without genetic data.…”

Section: Resultsmentioning

confidence: 99%

“…For eight patients, a genetic diagnosis was made, and the exact mutation was given for five patients ( 28 , 29 , 32 ); one study reported a mutation in SH3BP2 exon 9 but did not give the specific mutation ( 33 ). Very few extraoral cherubism manifestations were mentioned such as exophthalmia ( 30 , 31 ) and dysphagia ( 39 ). Table 3 summarizes the cherubism diagnostic features of the patients.…”

Section: Resultsmentioning

confidence: 99%

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Pharmacological management of cherubism: A systematic review

et al. 2023

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ObjectiveThe aim of this systematic review was to determine if there exists an efficacious drug treatment for cherubism, based on published studies.MethodsThis systematic review included observational case studies reporting pharmacological management of cherubism. We developed specific search strategies for PubMed (including Medline), ScienceDirect, Web of Science. We evaluated the methodological quality of the included studies using criteria from the Joanna Briggs Institute’s critical appraisal tools.ResultsAmong the 621 studies initially identified by our search script, 14 were selected for inclusion, of which five were classified as having a low risk of bias, four as having an unclear risk, and five a high risk. Overall, 18 cherubism patients were treated. The sample size in each case study ranged from one to three subjects. This review identified three types of drugs used for cherubism management: calcitonin, immunomodulators and anti-resorptive agents. However, the high heterogeneity in case reports and the lack of standardized outcomes precluded a definitive conclusion regarding the efficacy of any treatment for cherubism.ConclusionsThe present systematic review could not identify an effective treatment for cherubism due to the heterogeneity and limitations of the included studies. However, in response to these shortcomings, we devised a checklist of items that we recommend authors consider in order to standardize the reporting of cherubism cases and specifically when a treatment is given toward identification of an efficacious cherubism therapy.Systematic review registrationhttps://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42022351044, identifier CRD42022351044.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Pharmacological management of cherubism: A systematic review

et al. 2023

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“…Bar Droma et al (2020) reported that treatment of two patients with denosumab which can have a beneficial effect on the associated giant cell granuloma resulted in a positive outcome [31].…”

Section: Discussionmentioning

confidence: 99%

Advancing clinical genetics diagnostic skills: Cherubism

Al-Mosawi¹

2021

JCLR

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Background: Cherubism is a very rare, mostly a childhood condition that can be horribly disfiguring. We have previously reported our extensive experiences with the diagnosis of rare genetic disorders in a plethora of publications. We have previously reported a large number of rare conditions in Iraq, and we have also helped physicians in the diagnosis and publication of rare syndromes observed in other countries. The aim of this papers is to help physicians in advancing the diagnostic skills in the field of clinical genetics by reviewing briefly a rare syndrome that have not been reported in Iraq, but it is associated with certain clinical characteristics that allow an early diagnosis when seen for the first time. Patients and methods: During the last week of January, 2021, several TV channels presented and discussed the problem of two brothers from Egypt who were considered to have a very rare poorly defined condition that has been associated with progressive disfigurement which resulted in embarrassing social encounters. The cases of the two brothers are presented. Results: The older brother aged 15 and the younger brother aged 14 years. Both had abnormal bilateral and symmetric growth of the jaw resulting in a wide jaw appearance and a round and swollen appearance of cheeks. They also had no teeth on the lower jaw and loose or misplaced teeth on the upper jaw. The parents and a third brother were unaffected. Both children didn’t have mental retardation. The older brother had more severe disfigurement, and many people were asking him to remove the mask he is wearing. He also had very poor vision of left eye resulting from the pressure effect and upward displacement of the eye. The younger brother had a surgical operation to remove a benign tumor from the lower jaw which reduced his disfigurement. Conclusion: Awareness of doctors with this condition “Cherubism” is helpful, and denosumab can be tried in severe cases based on the evidence provided by Bar Droma et al (2020).

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Efficacy and Toxicity of Calcitonin Treatment in Children with Cherubism: A Single-Center Cohort Study

Schreuder,

Meijer,

Cleven

et al. 2023

Journal of Bone and Mineral Research

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Cherubism is a rare autosomal dominant disease characterized by expansile osteolytic jawbone lesions. The effect and safety of off‐label calcitonin treatment during the progressive phase of the disease are not well described. In this retrospective study, we present data on the radiological response and adverse effects of subcutaneously administered calcitonin in a cohort of nine cherubism children (3 female, 6 male). Two of the nine patients underwent two separate treatment courses with a significant off‐treatment interval in between; therefore, a total of 11 treatment courses with a mean duration of 17.9 months (range <1–35, SD 10.8) were studied. To measure response, the cumulative volume of cherubism lesions was calculated from available three‐dimensional imaging. The primary outcome was the change in the volume of lesions during calcitonin treatment and only assessed for the eight treatment courses with a minimal duration of 6 months. A statistically significant reduction in the mean cumulative volume of lesions was seen regardless of treatment duration. Average volume reduction was highest in the first half year of treatment, with a gradual, ongoing reduction thereafter. For the secondary outcome, the change in the cumulative volume of lesions after treatment cessation was assessed for the seven treatment courses with follow‐up imaging available. After six of these seven treatment courses, the cumulative volume increased again but remained undoubtedly smaller than the initial volume at the start of therapy. Adverse effects were assessed for all 11 treatment courses and occurred in 73% of them. Most adverse effects were mild and low grade, with the most severe being one grade 3 symptomatic hypocalcemia requiring hospitalization and early treatment termination. Calcitonin treatment seems effective and tolerable in treating actively progressing cherubism in children. However, further research is required to better understand the pharmacological treatment of cherubism, including also other drugs, dosing, and protocols.This article is protected by copyright. All rights reserved.

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Positive Outcomes of Denosumab Treatment in 2 Patients With Cherubism

Cited by 9 publications

References 21 publications

Pharmacological management of cherubism: A systematic review

Pharmacological management of cherubism: A systematic review

Advancing clinical genetics diagnostic skills: Cherubism

Efficacy and Toxicity of Calcitonin Treatment in Children with Cherubism: A Single-Center Cohort Study

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