Hereditary Multiple Exostoses Patients Research Articles

Higher femoral head–to–femoral neck ratio are associated with limited range of motion of hip joints in hereditary multiple exostosis patients

Hip involvement is one of the most common skeletal manifestations of hereditary multiple exostoses (HME) in 30-90% of the patients. The anatomical changes in the proximal femur in patients with HME, may lead to deformities and related functional deficits. Its effect on the range of motion (ROM) of the hip joint is not well described. The aim of this study was to evaluate the role of hip deformity of HME disease in the ROM of the hip joint. It was hypothesized that certain morphological parameters affect the ROM of the hip joint. Conclusively, 44 patients including 27 men and 17 women (88 hips) were evaluated. Hips are divided in Group 1 (no ROM limitation group) and Group 2 (ROM limitation group). The head-neck ratio (HNR), center edge angle (CE), Sharp’s acetabular angle (SAA), alpha angle (AA), neck shaft angle (NSA) and ROM parameters were measured. The correlations between radiological parameters (SAA, CE, NSA, AA and HNR), and the ROM data (F, E, Abd, Add, IR and ER) were statistically evaluated. All evaluated parameters (SAA, CE, NSA, AA) except the HNR do not show significant differences between study group 1 (no ROM limitation group) and group 2 (ROM limitation group). The means of the HNR in group 1 were significantly higher than those in group 2 (HNR: 1.23 vs. 0.92, p<0.001). In group 2 HNR showed a strong positive correlation with Abd (PC 0.72, p<0.001), E (PC 0.7, p<0.001), ER (PC 0.67, p<0.001), IR (PC 0.67, p<0.001) and F (PC 0.66, p<0.001). HME patients with hip involvement have better ROM of the hip joint, if they have the higher HNR. Additionally, a positive correlation between HNR and ROM capacity was determined.

Overcoming the Technical Challenges of Total Knee Arthroplasty in Patients Affected by Hereditary Multiple Exostoses: a Case Report and Literature Review

Hereditary multiple exostoses (HME), also known as familiar osteochondromatosis or diaphyseal aclasis, are an autosomal dominant inherited genetic pathology that is characterized by the presence of multiple benign osteochondromas. Knee deformity is common in patients with HME, with nearly a third of patients developing genu valgus. Total knee arthroplasty (TKA) has been used to correct valgus deformities with advanced knee osteoarthritis (OA). However, concomitant limb deformities and altered anatomy of the knee make this surgery particularly challenging. We present a case report and a mini-review of the literature on this topic. We present the case of a 50-year-old Caucasian woman, affected by hereditary multiple exostoses, who came to our attention for progressive pain in the right knee. Upon further examination, the knee had a prominent valgus alignment, concomitant valgus instability, and flexion contraction. The patient was treated with total knee arthroplasty using a semi-constrained design. The patient was re-evaluated at 24-month follow-up, and there were no signs of implant loosening, the knee function improved significantly, and the patient was very satisfied. Given the recurring technical difficulties of such procedure in these patients, we describe our experience as well as the need for preoperative planning, the use of appropriate constraint when required, the high frequency of ligament instability, bony defects, and patellar maltracking. TKA must be considered when necessary, in these patients, as good to excellent clinical results can be achieved and maintained, allowing for significant improvements in quality of life.Core Tips- TKA in HME-affected patients carries specific but manageable challenges.- Due to bone deformities and frequent severe valgus knee alignment, TKA should be considered even in younger patients.- Revision implants provide the flexibility and the necessary fixation, not always achievable with primary implants.- Bigger size components may be necessary in HME patients compared with patients of the same height.- Lateral ligament releases may often be necessary due to long-standing valgus deformity. If stability cannot be achieved, the use of a hinged implant should be considered.- Cementation of the metaphysis or the use of sleeves can provide additional rotational stability to the implant.

Guided Growth Improves Coxa Valga and Hip Subluxation in Children With Hereditary Multiple Exostoses.

In children with severe hereditary multiple exostoses (HME), coxa valga, and hip subluxation are common deformities. The literatures related to surgical management and prevention of hip joint subluxation in HME are scarce. In this study, we aimed to investigate the efficacy of guided growth procedure to correct coxa valga and hip subluxation in HME patients. We retrospectively retrieved 12 patients who received guided growth procedures for coxa valga and hip subluxation in HME patients with proximal femur exostoses with a minimum follow-up time of 2 years between 2012 and 2019. Radiographic parameters include head-shaft angle, Hilgenreiner-epiphyseal angle, acetabular index, Reimer migration percentage, center-edged angle, articulo-trochanteric distance, and femoral neck length for comparison between preoperative and latest follow-up results. It was conducted statistically by paired t test and Wilcoxon signed rank test. In this study, the mean difference between preoperative and latest follow-up was significant in head-shaft angle (12±5 degrees; CI, 10-14; P<0.001), Hilgenreiner-epiphyseal angle (12±5 degrees; CI, 10-15; P<0.001), and MP (7%±8%; CI, 3-11; P=0.001). There was a low revision rate (4 of 21, 19%) and no complication in our study. Compared with previous studies on guided growth in children with cerebral palsy and developmental dysplasia of the hip, our study showed good comparable outcomes. The results indicated that guided growth improves the hip radiographic parameters of children with HME and may prevent coxa valga and hip subluxations. It is a safe procedure and provides predictable results. Level IV; therapeutic, case series.

Lower limb deformities and limb length discrepancies in hereditary multiple exostoses.

There is a high rate of lower limb deformity and limb length discrepancy in patients with hereditary multiple exostoses (HME). The aim of this study was to evaluate the type and frequency of lower limbs axial deviation and limb length discrepancy and the type of exostoses being risk factors for theses deformities. We retrospectively reviewed standing full-length radiograph of 32 HME patients (64 limbs) followed in our institution between October 2009 and December 2020. Patient demographics were recorded. Radiographic analysis of the coronal limb alignment was performed, limb length discrepancy was measured and topography of the exostoses was recorded. We propose a classification of lower legs in 2 groups and 4 types according to the presence and the location of exostoses. In group I, there is an intertibio- fibular exostose with fibular origin at the level of the tibiofibular joints. In type IA, at the level of the distal tibiofibular joint with ascension of the distal fibula; in type IB at the level of the proximal tibiofibular joint with a bracketing effect on the proximal tibia and a lateral slope of the proximal tibial growth plate; the type IC is combining features of both IA and IB. In group II, there is no intertibio-fibular exostose coming from the fibula and no growth abnormality is obvious. A clinically notable lower limb discrepancy (LLD) of ≥2 cm was found in 19% of our patients. Approximately 33% of patients had a knee valgus deformity and 44% had an ankle valgus deformity. The knee valgus deformity was due to fibular growth anomalies and not to distal femur anomalies. The majority of lower legs had fibular growth anomalies (72%) which was a significant risk factor for knee valgus deformity and leg length discrepancy. On the contrary, we found no correlation between number, location and volume of distal femoral exostoses and genu valgum nor leg length discrepancy. Presence of intertibio-fibular exostoses is a risk factor for knee valgus deformity and leg length discrepancy. The presence of these exostoses should lead to a close follow-up of the patient.

Hereditary Multiple Exostoses-A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies.

Hereditary multiple exostoses (HMEs) syndrome, also known as multiple osteochondromas, represents a rare and severe human skeletal disorder. The disease is characterized by multiple benign cartilage-capped bony outgrowths, termed exostoses or osteochondromas, that locate most commonly in the juxta-epiphyseal portions of long bones. Affected individuals usually complain of persistent pain caused by the pressure on neighboring tissues, disturbance of blood circulation, or rarely by spinal cord compression. However, the most severe complication of this condition is malignant transformation into chondrosarcoma, occurring in up to 3.9% of HMEs patients. The disease results mainly from heterozygous loss-of-function alterations in the EXT1 or EXT2 genes, encoding Golgi-associated glycosyltransferases, responsible for heparan sulfate biosynthesis. Some of the patients with HMEs do not carry pathogenic variants in those genes, hence the presence of somatic mutations, deep intronic variants, or another genes/loci is suggested. This review presents the systematic analysis of current cellular and molecular concepts of HMEs along with clinical characteristics, clinical and molecular diagnostic methods, differential diagnosis, and potential treatment options.

Hemothorax and Pneumothorax Secondary to Costal Involvement in Hereditary Multiple Exostoses: A Systematic Review of Reported Cases in the Literature.

Hereditary multiple exostoses (HME) are an autosomal dominant skeletal disorder characterized by the development of multiple benign osteochondromas (exostoses) that frequently involve long bones of the body. Less commonly, the ribs are a site of involvement, and long-term friction between an exostosis and pleura can produce a hemothorax or pneumothorax. The purpose of this study is to provide a comprehensive review of existing literature on pneumothorax or hemothorax secondary to costal exostosis in HME patients. We reviewed the databases of PubMed and Embase and included data as current as of February 15, 2021. All case reports included cases of hemothorax or pneumothorax in patients with a known personal or family history of HME. After evaluation for inclusion based on eligibility criteria, 18 cases were included. The average age at presentation was 11.7 years (range: 3-32), and most patients were male (83%). Hemothoraces occurred in 15 cases, while pneumothoraces occurred in three cases. All cases were evaluated using chest X-ray and CT scan, and the majority of the cases were treated with surgical resection of the exostosis, either with video-assisted thoracoscopic surgery (VATS; 61%) or thoracotomy (22%). Outcomes were successful with no cases of recurrence after surgical intervention. Although rare, costal exostosis should be considered as a differential in patients presenting with pneumothorax or hemothorax and past medical history or physical exam findings suggestive of HME. Immediate evaluation and surgical intervention to resect costal exostosis are essential to reduce the risk of recurrent life-threatening injury.

Natural History and Characteristics of Hand Exostoses in Multiple Hereditary Exostoses

Multiple hereditary exostoses (MHEs) comprise a rare skeletal disorder. This study aimed to elucidate the natural history and characteristics of hand exostoses by focusing on their progression or regression and their association with shortening and angular deformation of the finger bones. Of 60 MHE patients who presented to our hospital between 2005 and 2019, 32 patients (62 hands) who underwent hand x-ray examinations were included in a study of initial presentation. Among them, 15 patients (30 hands) who underwent consecutive x-ray examinations before epiphyseal closure were included in a subsequent follow-up study (follow-up period, 6.9 years). We investigated the incidence and common location of hand involvement by exostoses during the initial examination study. We further investigated the progression or regression of hand exostoses and the influence of hand exostoses on longitudinal bone growth and the angular deformation of finger bones during the follow-up study. In the initial study, we observed exostoses in 30 (60 hands) of 32 (62 hands) patients. The average number of exostoses per hand was 5.2. Exostoses developed more frequently in the middle and ring proximal phalanges and the fifth metacarpal. In the follow-up study, 3.1 exostoses per hand spontaneously regressed and 2.9 exostoses per hand occurred de novo with growth. Progression of exostoses was mainly observed by approximately age 15 years; thereafter, spontaneous regression became dominant. Regression of exostoses was frequently observed in metacarpals, whereas de novo exostoses frequently occurred in phalangeal bones, particularly in distal phalanges. Growth plate involvement by exostoses did not influence the longitudinal growth of finger bones, but it increased their angulation. The hand is a common location of exostoses development for MHE patients. Although some exostoses in the hands regress with skeletal maturity, hand involvement by exostoses can result in angular deformity. Diagnostic IV.

Characteristics of hip impingement syndrome in patients with multiple hereditary exostoses

BackgroundsThis study aimed to investigate the characteristic deformities of the hip in multiple hereditary exostoses patients (MHE) and its association with the hip impingement syndrome.Materials and methodsBetween 2001 and 2019, total 51 patients (102 hips) were evaluated in this study. Patients with MHE were classified to femoro-acetabular impingement (FAI) symptom group, ischio-femoral impingement (IFI) symptom group and non-impingement symptom group by comparing the symptoms, clinical signs and imaging studies. To assess the morphometry of the hip in patients with MHE, the femoral neck-shaft angle, Sharp’s acetabular angle and center-edge (CE) angle were evaluated. Alpha angle was further evaluated to investigate the FAI using radiographs, and the minimum ischio-femoral distance was further measured to investigate the IFI using computed-tomographic (CT) study.ResultsOn hip impingement symptom analysis, FAI symptom and IFI symptom were confirmed in 14 hip joints and 18 hip joints, respectively. Unlike general population, the number of the hip with IFI-symptom was higher than those with FAI symptom in this study. In morphometric evaluation of MHE hips, coxa valga was most prominent deformity with occasional tendency of mild acetabular dysplasia. In a comparison of morphometric study between the impingement symptom group and non-symptom group, the FAI symptom showed significant differences of morphometric measure values than those of the non-symptom group (FAI symptom group vs. Non-FAI symptom group; Femoral neck-shaft angle (153.9 vs 142.6), Sharp’s angle (45.0 vs 41.5), CE angle (21.1 vs 28.8) and alpha angle (76.7 vs 57.9)). Similarly, the IFI symptom group also showed significant differences of morphometric measure values than those of the non-symptom group (IFI-symptom vs. Non-IFI symptom; Femoral neck-shaft angle (150.9 vs 142.7), Sharp’s angle (44.7 vs 41.4), CE angle (21.1 vs 29.3) and alpha angle (73.3 vs 56.8)). In addition, the minimum ischio-femoral distance measured using CT was significantly decreased in the IFI symptom group (IFI symptom group: 6.6, Non-IFI symptom group: 16.4).ConclusionThe results suggest that the characteristic deformities represented by coxa valga in the MHE hip act as an offset for FAI symptoms, on the contrary, act as a trigger for IFI symptoms.Level of evidenceLevel III.

Novel deletion and 2397 G>T mutations of the EXT1 gene identified in two Chinese pedigrees with hereditary multiple exostoses using exon sequencing.

BackgroundHereditary multiple exostoses (HME), a rare genetic pediatric disorder, has a peculiar pathogenic mechanism. The results of previous studies have shown that HME is associated with mutations of the EXT1 and EXT2 genes at a molecular genetics level. In our study, two families who received therapy in the Department of Orthopedics of Shanghai Children’s Hospital between June, 2017 and November, 2018 were recruited, and a mutational analysis of the EXT1 genes was conducted to further elucidating the relationship between HME and EXT1.MethodsVenous blood samples were collected from individuals with HME and their families. Exon sequencing and RT-PCR were performed to comprehensively analyze 11 exons of the EXT1 gene.ResultsThe deletion of exon 7 and the 2397 G>T mutation in exon 7 caused deletion mutation and nonsense mutation only in the HME patients. The mutations in exon 7 were tested and verified by Sanger sequencing. RT-PCR showed that the mRNA expression of EXT1 was significantly decreased in the mutation samples compared with the normal samples, which exerted a great influence on the function of EXT1.ConclusionsThis study identified new mutation sites for the pathogenesis of HME and further clarified the relationship between HME and EXT1.

An analysis of osteoporosis in patients with hereditary multiple exostoses.

There are few reports of osteoporosis in hereditary multiple exostoses (HME) patients. Therefore, the purpose of this study was to analyze osteoporosis in HME patients. This retrospective cohort study included 20 patients diagnosed with HME. Patients underwent bone mineral density (BMD) measurement of the lumbar spine (n= 20) and femoral neck (n= 40). Bone metabolic parameters, including serum osteocalcin and urinary cross-linked N-telopeptide of type 1 collagen (NTx), were analyzed in all subjects. EXT1 and EXT2 genes were sequenced using genomic DNA. We also examined the correlation between genotype and BMD Z-score and T-score. The mean BMD values of the lumbar spine were 1.085 ± 0.116g/cm2 (n= 11) in male and 1.108 ± 0.088g/cm2 (n= 9) in female. The mean BMD values of the femoral neck area were 0.759 ± 0.125g/cm2 (n= 22) in male and 0.749 ± 0.115g/cm2 (n= 18) in female. Z-score of most HME patients show < 0, indicating that these patients tend to have low bone mass compared with the age-matched population. According to the T-score of BMD, 30% (6 of 20) and 67.5% (27 of 40) of the patients fell in the range of osteopenia in the lumbar spine and femoral neck areas, respectively. Serum osteocalcin and urinary NTx were in the normal range in most patients. There was no significant correlation between genotypes and Z-score. HME patients have low bone mass, especially in the femoral neck area. They do not have abnormal bone metabolism, and there was no correlation between genotypes and Z-score.

Radiographic characteristics of the hip joint in skeletally mature patients with multiple hereditary exostoses.

To elucidate the radiological characteristics of the hips, especially in proximal femur, of skeletally mature patients with multiple hereditary exostoses (MHE). Fifty eligible patients (100 hips) were included in the study and assigned to the MHE group. The control group included age- and sex-matched individuals, and the radiographs of 100 hips were used as controls. We examined the anatomical characteristics of the acetabulum and the proximal femur, including the acetabular depth-width ratio (ADR), Sharp's angle, femoral neck-shaft angle (NSA), Wiberg's centre-edge angle (CEA), femoral neck axis length (FNAL), femoral head diameter, (FHD), femoral neck width (FNW), femoral shaft width (FSW), femoral neck-shaft angle (NSA), and femoral head-neck ratio (FHNR = FHD/FNW). p value < 0.05 was considered significant. Osteochondroma was frequently observed in the medial femoral neck (79%), but it was rarely found in the femoral head (1%). ADR and Sharp's angle were not significantly different between the MHE and control groups (p = 0.2056, p = 0.5025). CEA was significantly different between the two groups (p < 0.0001). FNW was significantly larger in the MHE group than in the control group (p < 0.0001). FHNR was significantly different between the two groups (p < 0.0001). NSA was significantly larger than the MHE group (141.8° ± 9.7° vs 129.5° ± 5.6°, p < 0.0001). Hip dysplasia in the pelvic side was not commonly observed in skeletally mature MHE patients. However, they showed femoral neck widening and coxa valga. The occurrence of osteochondroma around the femoral neck affects the degree of valgus deformity. These facts could be useful for orthopaedic surgeons treating MHE patients.

Predicting Radial Head Instability in Multiple Hereditary Exostoses (MHE): A Multicenter Analysis of Risk Factors.

Forearm deformity occurs in one third of patients with multiple hereditary exostoses (MHE). Conservative and surgical treatment are aimed at preventing radial head subluxation and/or dislocation. Dislocation has been associated with isolated distal ulnar lesions, radial bowing, and ulnar shortening. Risk factors for radial head subluxation have not been clearly elucidated. This study aimed to identify risk factors for all radial head instability in MHE, to optimize early detection and prevent frank dislocation. This multicenter retrospective case-control investigation included MHE patients with forearm lesions seen between 2000 and 2017 at 2 tertiary care children's hospitals. Demographic, clinical factors, radiographic measures, and surgical history were quantified. Comparisons were made between forearms that developed radial head instability versus those that remained stable and between those that progressed to radial head subluxation versus those that progressed to dislocation. This study included 171 forearms in 113 patients with MHE, who presented at a mean age of 8.0 years with a median follow-up time of 6.0 years. Nine forearms progressed to radial head subluxation (mean age: 10.2 y), and 24 forearms had radial head dislocation (mean age: 9.9 y). Five subluxations and 3 dislocations occurred despite preventative surgery. Initial radial bowing (7.2% vs. 8.5%, P=0.04), ulnar variance (-5.8% vs. 11.0%, P<0.001), and ulnar shortening (-2.5 vs. 9.1 mm, P=0.04) were predictive of radial head instability. Distal ulnar lesions and more severe ulnar variance (-5.8 vs. -10.6, P<0.001) and shortening (-2.5 vs. 13.2 mm, P=0.02) were associated with an increased risk of radial head subluxation. No significant differences were identified between forearms that progressed to subluxation versus those that progressed to dislocation. Distal ulnar lesions and radiographic measures can be used to determine the risk of radial head instability in MHE. Ulnar variance and shortening are early identifiable risk factors for radial head subluxation that can help guide monitoring and treatment. Radial bowing may be a late predictor of instability. Level III-prognostic.

Total Hip Arthroplasty for Secondary Coxarthrosis in Patients with Hereditary Multiple Exostoses: Minimum 5-Year Follow-up Results and Surgical Considerations.

BackgroundHereditary multiple exostoses (HME) is an autosomal dominant disorder. The lesion in the proximal femoral metaphysis can bring about hip dysplasia and subsequent degenerative arthritis. Due to its rare prevalence, there have been a few case reports of total hip arthroplasty (THA) for osteoarthritis secondary to HME. The aim of this study was to report mid- to long-term outcomes of THA in HME patients and discuss special considerations that should be taken into account during surgery.MethodsWe retrospectively evaluated the clinical and radiological results of THA for osteoarthritis secondary to HME in 11 hips of 9 patients after a minimum follow-up of 5 years (mean, 9.9 years). There were 3 men (3 hips) and 6 women (8 hips), with a mean age of 53.6 years (range, 46.8–58 years) at the index surgery in this study. Harris hip score (HHS) was used for clinical outcome assessment, and radiologically, implant stability, radiolucent lines, liner wear, and any sign of osteolysis or implant loosening were evaluated. Postoperative complications including infection, deep vein thrombosis, and dislocations were also investigated.ResultsCemented stems and cementless cups with the conventional polyethylene liner were used in bilateral hips of a single patient. In the other cases, cementless implants were used with ceramic-on-ceramic bearings. The mean HHS improved from 34.8 preoperatively to 92.5 postoperatively. Polyethylene liner wear and osteolysis were observed in 1 patient with cemented stems. Radiolucent lines were observed in 2 different cases. However, the femoral stems remained stable. There were no surgery-related complications except heterotopic ossification during follow-up.ConclusionsDespite the several surgical considerations, the mid- to long-term clinical and radiological outcomes of THA in HME patients were satisfactory. The abnormal, wide mediolateral diameter of the proximal metaphysis should be considered in selecting and inserting the stem with adequate anteversion. Leg length discrepancy was also common, so teleradiographs should be obtained before surgery. Intraoperative leg length evaluation might be difficult due to the morphologic changes in the proximal femur after mass excision and individual bone length differences.

Spinal Screening MRI Trends in Patients with Multiple Hereditary Exostoses: National Survey.

BackgroundMultiple hereditary exostoses (MHE) is a rare disease characterized by multiple osteochondromas. Osteochondromas growing into the spinal canal can produce devastating consequences, including permanent neurologic deficits and even death. Routine screening of the entire spinal canal with magnetic resonance imaging (MRI) is a controversial topic lacking a clear consensus or recommendation to guide decision-making. This study presents a case of an intracanal osteochondroma at C1 identified by routine screening and a survey describing current practices of MHE experts.MethodsMHE experts were surveyed. Survey questions addressed multiple aspects of care, including the type of practice center, the volume of patients with MHE, and current screening practices.ResultsA total of 104 experts were contacted, with a total of 26 experts participating in the survey and 23 completing the entire survey. Seventy-two percent of respondents do not perform a routine MRI screen of the spine. For experts that routinely screen, screening is performed across a wide/variable age range (4-18 years).ConclusionScreening protocols for MHE patients to identify osteochondromas within the spinal canal has struggled to reach consensus due to the rarity of the disease. Recent literature provides conflicting advice for patients without neurological symptoms. Our study demonstrates that even experts who are leading the field demonstrate wide practice variability. Most respondents do not routinely perform screening spinal MRI. Due to the wide variability, a national guideline is needed to help guide physician and parental decision-making for patients with MHE. Our case illustrates the potential benefit of identifying an osteochondroma within the spinal canal at a location where further growth could have devastating neurological sequelae.

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Introduction The incidence of forearm deformities in children with multiple hereditary exostoses (MHE) ranges from 30 to 80 %. There are few studies of deformities of the forearm in MHE patients in the literature that describe not only the location of exostoses and position of the head of the radius but also the true variants of forearm deformities. The aim of the study was to investigate forearm bone deformities in patients with multiple hereditary exostoses. Materials and methods Radiographs of the bones of the forearm in 84 patients (151 limbs) diagnosed with multiple hereditary exostoses in the age of four to 17 years who were treated at our institute from 2004 to 2018 were retrospectively analysed. The study involved 47 boys and 37 girls; 67 patients (80 %) had bilateral lesions, and 17 patients (20 %) had lesions of only one upper limb. Patients were divided into four groups depending on the type according to the Jo and Jung’s classification. The deformities were evaluated based on radiological methods in accordance with the reference linesand angles for the forearm bones. Results The most common variants of forearm deformities were revealed: varus recurvatum at the border of the upper and middle third of the ulna (55 %), varus recurvatum at the border of the upper and middle third of the ulna associated with varus of the radius in the middle third (15 % of cases); as well as their combinations accompanied by dislocation or subluxation of the radial head (30 %). RAA (radial articular angle) and RB (radial bowing) did not have significant difference in various types of deformities of the forearm according to Jo and Jung’s classification. Conclusion The study of the variety of forearm deformities in children due to multiple hereditary exostoses will assist in a differentiated approach to the choice of surgical treatment methods depending on the type of deformity.

Coronal malalignment of lower legs depending on the locations of the exostoses in patients with multiple hereditary exostoses

BackgroundsThough malalignment of lower legs is a common pathologic phenomenon in multiple hereditary exostoses (MHE), relationship between locations of exostoses and malalignment of lower legs remains unclear. This study examined radiographs of MHE patients in an attempt to evaluate the tendency of coronal malalignment of lower legs with different location of exostoses on lower legs consisting of two parallel long bones.MethodsBetween 2000 and 2017, we retrospectively reviewed the anteroposterior films of the teleo-roentgenographics of 63 patients with MHE. The patients were classified into four different groups depending on the locations of the exostosis, which occurred on both proximal and distal tibiofibular joints (A), proximal tibiofibular joint (B), distal tibiofibular joint (C), and not for the tibiofibular joint area (D). To evaluate the influence of the location of exostoses on coronal malalignment of lower legs, medial proximal tibia angle (MPTA), lateral distal tibia angle (LDTA), and fibular shortening were analyzed for each group.ResultsSignificant difference was observed in multiple comparative analyses for each of the four groups. On MPTA radiologic analysis, group A showed greatest value with significant difference compared with groups C and D (vs. (B): p = 0.215; vs. distal joints (C): p = 0.004; vs. (D): p = 0.001). Group B showed significant difference only with group D (vs. distal joints (C): p = 0.388; vs. (D): p = 0.002), but for group C and D showed no significant difference. For LDTA, only group A showed significant difference compared to other groups (p < 0.001). With regard to tibiofibular ratio for evaluation of fibular shortening, group A showed the lowest ratio (vs. (B): p = 0.004; vs. (C): p = 0.655; vs. (D): p < 0.001). Group C also presented the significant lower ratio than group D (p = 0.002).ConclusionsFor evaluation of the coronal malalignment of lower legs in MHE patients, not only ankle around the distal tibiofibular joint but also proximal tibiofibular joint should be examined, in that, lower limb deformity occurred by two parallel long bone which has self-contained joint.Level of evidenceLevel III, retrospective comparative study.

Pain and Depression in Pediatric Hereditary Multiple Exostoses Patients

Amaç: Çalışmamızda Herediter Multipl Egzostozis (HME) hasta grubunda başta ağrı olmak üzere hastalığa ait komplikasyonların çocuk ve adölesan dönemdeki etkilerini değerlendirmeyi amaçladık. Hastalar ve Yöntem: 10-19 yaş arası 72 (37Erkek/ 32Kadın) hasta değerlendirmeye dahil edildi. Ortalama yaş 13.8±2.6 idi. Hastaların demografik verileri, lezyonların ilk ortaya çıktığı yaş, lezyon sayıları, deformite varlığı ve VAS skoru ile ağrı durumları değerlendirildi. Çalışmaya katılan hastalara, ağrının yaşam kalitesi üzerine etkilerini değerlendirmeye yönelik bir anket yöneltildi. Depresyon değerlendirmesi 17 yaş ve altı hastalarda Çocuklar için Depresyon Ölçeği (ÇDÖ) ve 18 yaş ve üstü hastalar için Hamilton Depresyon Ölçeği (HAM-D) ile değerlendirildi. Grup değişkenlerinin frekans ve yüzdelik değerleri, iki grup ortalaması arasındaki farkları belirlemede “t-testi”; ikiden fazla ortalamanın karşılaştırılmasında; tek yönlü varyans analizi kullanıldı Bulgular: Hastaların %68.1’i (n=49) HME nedeniyle bir veya daha fazla cerrahi girişim geçirmiş olgulardan oluşmaktaydı. Ağrı, hastaların %72.2’sinde (n=52) en belirgin şikayet idi. Ağrıyı başlatan en sık sebepler hastaların %52.8’inde koşma iken, %50’sinde kontakt sporlar (futbol, basketbol vb.) idi. Hastaların %31.9’u ağrının günlük yaşam aktivitelerini kısıtlayabildiğini bildirirken ortalama tüm gruplarda ortalama VAS skoru 7.4±2.4 idi. VAS skoru azaldıkça ÇDÖ puanlarında anlamlı bir artış tespit edildi. (p=0.005) Yüksek ÇDÖ ve HAM-D puanlarının geçirilen ameliyat sayısı (p=0.015), bir aydaki ağrılı gün sayısı (p&amp;lt;0.001), düşük VAS skoru (p=0.005) ve ekstremitelerde yer alan lezyon sayıları (p=0.003) ile anlamlı olarak ilişkili olduğu belirlendi. Sonuç: Ağrı pediatrik HME hastalarında sosyokültürel aktiviteleri ve etkileşimi kısıtlayabilen en önemli sorunlardan biridir. Geçirilen ameliyat sayısı, bir ayda yaşanan ağrılı gün sayısı, düşük VAS skorları ve artmış lezyon sayıları HME hastalarında yaşam kalitesini negatif etkileyen ve pediatrik yaş grubunda depresyona yol açabilen faktörlerdir. HME hastalığın süresi pediatrik hastalarda depresyon ile ilişkilidir.

Less Is More: Ulnar Lengthening Alone without Radial Corrective Osteotomy in Forearm Deformity Secondary to Hereditary Multiple Exostoses.

Ulnar lengthening has gained popularity in treating forearm deformity due to hereditary multiple exostoses (HME). Whether a simultaneous radius angular correction is necessary for bowing deformity remains debatable. We aimed to evaluate effectiveness and safety of ulnar lengthening alone in HME children. HME patients with forearm deformity who underwent ulnar lengthening between 2011 and 2016 were included. Patients were divided into two groups: eight juniors (age ≤ 10 years) and six seniors (>10 years). The mean age of two groups was 8.1 ± 2.5 and 16.7 ± 4.4 years, respectively. The juniors underwent ulnar lengthening alone, and the seniors received an additional radial corrective osteotomy. Pre-operative and post-operative parameters of supination, pronation, ulnar variance (UV), radial articular angles (RAA), and carpal slip (CS) were assessed. The juniors rather the seniors had an improvement in supination (p < 0.05 and p = 0.109, respectively). The juniors and seniors improved in pronation (p < 0.05). UV, RAA, and CS were corrected in the seniors (p < 0.05). In the juniors, parameters improved in UV, RAA, and CS (p < 0.05). For HME children, ulnar lengthening alone can restore radiologic anatomy and functions, providing comparable surgical outcomes in cosmetic results and clinical parameters.

Ankle Mortise Instability in Multiple Hereditary Exostoses

Category:Ankle, Ankle Arthritis, Pediatric Foot and AnkleIntroduction/Purpose:Ankle valgus has been reported in 50% of patients with multiple hereditary exostoses (MHE) and, untreated, results in early arthrosis. Widening of the ankle mortise has also been reported; however, there has been a lack of data regarding its natural history and management. Alterations of mortise anatomy result in poor functional outcomes and accelerated arthrosis of the ankle. The aim of our study was to report the characteristics and outcomes of mortise widening in a group of patients with MHE.Methods:A total of 13 patients with MHE and mortise widening (16 ankles) were identified. Age, sex, BMI, laterality, origin of osteochondroma, pain, instability, clinical deformity, operative data, and complications were recorded. Mortise (M), Talocrural angle (TC), and Tibiotalar angle (TT) measurements were collected on preoperative and last follow up radiographs. The majority of patients underwent medial distal tibia hemiepiphysiodesis. Post-surgical AOFAS and SF36 scores were collected.Results:Preoperatively, no patient complained of instability, however, 9/16 ankles were painful and 14/16 were clinically in valgus. Patients underwent surgery at an age of 11.8 years (9.7-15). Radiographic and clinical follow up were 2.6 years (0.2-7.3) and 6 years (1.5-11.7), respectively. There were no significant differences between pre/postoperative M, TC, TT angles. Operative patients improved mean M (5.17 to 4.63 mm) and TT (8.71 to 4.54 degrees), neither angle reached normal values. TC (fibular length) was within normal limits (82.2 to 84.8). Questionnaires were obtained for 8/16 ankles, at a mean age of 19 years (13-25.1). The average AOFAS score was 66.7 out of 100. Patients scored 8.6/10 for alignment, 32/40 for pain, 25.6/50 for function. SF-36 scores were excellent.Conclusion:The improvement in M and TT was modest and their values remained outside the normal limits. TC angle was within normal limits but displayed an overall fibular shortening and thus, decreased lateral buttress with potential for talar shift. This was reflected in the mean functional and overall AOFAS score. However, our patients are functionally compensating as evidenced by SF36 scores. More studies are needed to optimize the management of MHE patients with ankle malalignment. Earlier valgus correction and possible addition of fibular lengthening to simultaneously address mortise widening may need to be considered to prevent early ankle arthritis.

Whole-body MRI in assessing malignant transformation in multiple hereditary exostoses and enchondromatosis: audit results and literature review.

To analyze the results of annual screening using whole-body magnetic resonance imaging (WBMRI) in patients with multiple hereditary exostoses (MHE) and enchondromatosis (EC), and estimate the risk for transformation to chondrosarcoma (CS) in these disorders. A total of 62 patients (57 with MHE and five with EC) screened during a mean follow-up period of 4.6years (range, 1-10years) using 253 WBMRIs (median four WBMRIs per patient, range, 1-10) were analyzed retrospectively. The time of WBMRIs was compared with dates for diagnosed CSs. A supplementary literature review was performed focusing on the risk of malignant transformation. Ten patients had CS before being enrolled in the screening program, nine with MHE and one with EC. Three asymptomatic CSs were detected by screening; one in a patient with EC and two in patients with MHE, one of whom had CS previously. During the screening period, there was no occurrence of CS not detected by WBMRI in the study group. Histopathologically, the CSs were predominantly grade 1 and were, except for in two patients, located at the truncus, proximal femur, and shoulder girdle. Based on the current material and literature review, the risk of CS seems to be in the range of 2-3.7% for MHE and up to 50% for EC patients. MRI may be used as a screening method detecting malignant transformation in MHE and EC patients, but the efficacy has to be confirmed in long-term follow-up studies including cost analysis.