The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice

Mordenti, Marina; Gnoli, Maria; Boarini, Manila; Trisolino, Giovanni; Evangelista, Andrea; Pedrini, Elena; Corsini, Serena; Tremosini, Morena; Staals, Eric L.; Antonioli, Diego; Stilli, Stefano; Donati, Davide María; Sangiorgi, Luca

doi:10.1002/ajmg.a.62470

Cited by 10 publications

(3 citation statements)

References 26 publications

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“…According to the IOR (Istituto Ortopedico Rizzoli) classi cation, which identi es three classes of patients based on the presence/absence of deformities and/or limitations, T97 can be included in the IIIB category, i.e. deformities and > 1 site with functional limitation (Mordenti et al 2021).…”

Section: Resultsmentioning

confidence: 99%

The most severe case of multiple osteochondromas in paleopathological record is from an Early Medieval burial site in the Venetian Lagoon

Viva,

Lonoce,

Bigo

et al. 2024

Preprint

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In recent years, paleopathological cases from ancient contexts are being increasingly taken into account to reconstruct the clinical history of a number of diseases, in particular congenital ones, at times still featuring in the genes of present-day populations. The skeleton of a male (T97) with an estimated age-at-death of 40–45 years has been found in the Early Medieval phase of an archaeological site in the Venetian Lagoon (north-east Italy). Through the osteoarchaeological study, full skeletal CT, histopathological examination, and comparison with other case studies a diagnosis was made. It is now possible to provide a detailed evaluation of the most severe case of multiple osteochondromas (MO) ever to be documented by paleopathology. T97 currently appears to be the most severe case of MO ever to be attested from archaeological context. No skeletal remains documented so far, either in Italy or abroad, have revealed such a high number of osteochondromas and chondrosarcomas, i.e. malignant mutations. Moreover, the individual in question appears to have developed all the characteristic features of the pathology, resulting in a unicum in the international landscape. The present case of multiple osteochondroma is useful in understanding the natural clinical dynamics of this disease, providing for the first time a CT scan of a complete skeleton affected, as well as the survival of an individual with severe disabilities in a Medieval context.

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Section: Resultsmentioning

confidence: 99%

The most severe case of multiple osteochondromas in paleopathological record is from an Early Medieval burial site in the Venetian Lagoon

Viva,

Lonoce,

Bigo

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…We used the scale of severity by the Istituto Ortopedico Rizzoli (IOR) classification [32] and its revised version [33]. We performed assessments according to the old and new versions of the IOR scale separately.…”

Section: Collected Clinical Datamentioning

confidence: 99%

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

Borovikov,

Galeeva,

Marakhonov

et al. 2024

Human Mutation

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This study is aimed at investigating the clinical and genetic characteristics of 244 unrelated probands diagnosed with multiple osteochondromas (MO). The diagnosis of MO typically involves identifying multiple benign bone tumors known as osteochondromas (OCs) through imaging studies and physical examinations. However, cases with both OCs and enchondromas (ECs) may indicate the more rare condition metachondromatosis (MC), which is assumed to be distinct disease. Previous cohort studies of MO found heterozygous loss-of-function (LoF) variants only in the EXT1 or EXT2 genes, with DNA diagnostic yield ranging from 78 to 95%. The PTPN11 gene, which is causative for MC, was not previously investigated as a gene candidate for MO. In this study, we detected a total of 177 unique single nucleotide and copy number variants in three genes across 220 probands, consisting of 80 previously reported and 97 novel variants. Specifically, we identified five cases with OCs and no ECs as well as four cases with MC carrying LoF variants in the PTPN11 gene and two additional cases with ECs harboring variants in the EXT1/2 genes. These findings suggest a potential overlap between the MO and MC both phenotypically and genetically. These findings highlight the importance of expanding genetic testing beyond the EXT1 and EXT2 genes in MO cases, as other genes such as PTPN11 may also be causative. This can improve the accuracy of diagnosis and treatment for individuals with MO and MC. It is essential to determine whether MO and MC represent distinct diseases or if they encompass a broader clinical spectrum.

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“…The knee (distal femur, proximal tibia, or proximal fibula) is affected in >90% of cases, making both pathologic genu varum and valgum common complications 1,2 . When not addressed, this can cause further pain and altered gait mechanics, in addition to deformity 3 …”

mentioning

confidence: 99%

Hemiepiphysiodesis for Genu Valgum in Patients With Multiple Hereditary Exostoses

Bram,

Li,

Tracey

et al. 2024

Journal of Pediatric Orthopaedics

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Background: Genu valgum is a well-known feature of multiple hereditary exostoses (MHE). Though prior reports have demonstrated successful treatment with hemiepiphysiodesis, details regarding the correction rate and comparison to an idiopathic population are lacking. This study aimed to detail our institution’s experience with guided growth of the knee in patients with MHE and compare this to an idiopathic population. Methods: All pediatric patients (age 18 and younger) with MHE who underwent lower extremity hemiepiphysiodesis at a tertiary care medical center between January 2016 and December 2022 were retrospectively reviewed. Preoperative and postoperative mechanical lateral distal femoral angle (mLDFA) and medial proximal tibial angle (MPTA, the primary outcomes) were measured in addition to mechanical axis deviation (MAD) and hip-knee-ankle angle (HKA). Patients were 1:2 matched based on age, sex, and physes instrumented to a cohort with idiopathic genu valgum. Results: A total of 21 extremities in 16 patients with MHE underwent hemiepiphysiodesis of the distal femur, proximal tibia, and/or distal tibia. The mean age at surgery was 11.7±2.2 years. Mean MAD corrected from zone 1.9±0.7 to -0.3±1.5, while mLDFA corrected from 83.4±2.9 to 91.7±5.2 degrees and MPTA corrected from 95.3±3.6 to 90.5±4.0 degrees in distal femurs and proximal tibias undergoing guided growth, respectively. Three extremities (14.3%) experienced overcorrection ≥5 degrees managed with observation. There were no differences in correction rates per month for mLDFA (0.54±0.34 vs. 0.51±0.29 degrees, P=0.738) or MPTA (0.31±0.26 vs. 0.50±0.59 degrees, P=0.453) between MHE and idiopathic groups. For 11 extremities in the MHE group with open physes at hardware removal, they experienced a mean recurrence of HKA of 4.0±3.4 degrees at 19-month follow-up. Conclusion: Hemiepiphysiodesis corrects lower extremity malalignment in patients with MHE at a similar rate compared with an idiopathic coronal plane deformity population. Rebound deformity of 4 degrees at 19 months after hardware removal in patients with remaining open growth plates should make surgeons conscious of the remaining growth potential when planning deformity correction. Level of Evidence: Level III.

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The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice

Cited by 10 publications

References 26 publications

The most severe case of multiple osteochondromas in paleopathological record is from an Early Medieval burial site in the Venetian Lagoon

The most severe case of multiple osteochondromas in paleopathological record is from an Early Medieval burial site in the Venetian Lagoon

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

Hemiepiphysiodesis for Genu Valgum in Patients With Multiple Hereditary Exostoses

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