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BMC Musculoskeletal Disorders Feb 2021This study aimed to investigate the characteristic deformities of the hip in multiple hereditary exostoses patients (MHE) and its association with the hip impingement...
BACKGROUNDS
This 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 METHODS
Between 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.
RESULTS
On 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).
CONCLUSION
The 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 EVIDENCE
Level III.
Topics: Exostoses, Multiple Hereditary; Femoracetabular Impingement; Hip Dislocation; Hip Dislocation, Congenital; Hip Joint; Humans
PubMed: 33549073
DOI: 10.1186/s12891-021-04021-1 -
Orphanet Journal of Rare Diseases Apr 2022Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer... (Review)
Review
BACKGROUND
Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of clinical recommendations in such rare diseases. We report a new case and provide the first systematic review of all previous published cases.
OBJECTIVE
To better describe the timeline of SWS and to improve paediatric management.
DATA SOURCES
SWS English publications available on Pubmed until 31/03/2021.
STUDY SELECTION
Case description combining typical osteo-articular and dysautonomic involvement (with 2 items by categories required for children < 2 years and 3 items > 2 years).
DATA EXTRACTION
Demographic, clinical, genetics and outcome data.
RESULTS
In our cohort of 69 patients, the median age at report was 32 months. Only 46% presented antenatal signs. Mortality rate is higher during the first 2 years (42% < 2 years; 10% > 2 years) mainly due to respiratory failure, pulmonary arterial hypertension appearing to be a poor prognosis factor (mortality rate 63%). After 2 years, orthopaedic symptoms significantly increase including joint mobility restriction (81%), spinal deformations (77%) and fractures (61%).
CONCLUSIONS
Natural history of SWS is marked by a high mortality rate before 2 years due to dysautonomic disturbances. A specialized multidisciplinary approach is needed to address these early mortality risks and then adapt to the specific, mainly orthopaedic, needs of patients after 2 years of age. Further research is required to provide clinical guidelines and improve pre-natal counselling.
Topics: Abnormalities, Multiple; Child; Exostoses, Multiple Hereditary; Female; Humans; Osteochondrodysplasias; Pregnancy; Respiratory Insufficiency
PubMed: 35461249
DOI: 10.1186/s13023-022-02323-8 -
Annals of Saudi Medicine 2014Melorheostosis is an uncommon, sporadic, sclerosing bone lesion that may affect the adjacent soft tissues. It has been associated with many entities such as...
Melorheostosis is an uncommon, sporadic, sclerosing bone lesion that may affect the adjacent soft tissues. It has been associated with many entities such as osteopoikilosis, soft tissue vascular malformations, bone and soft tissue tumors, nephrotic syndrome, segmental limb contractures, osteosarcoma, desmoid tumor, and mesenteric fibromatosis. Synovial osteochondromatosis is a benign neoplasia of the hyaline cartilage presenting as nodules in the subsynovial tissue of a joint or tendon sheath. The intra-articular extension of melorheostosis mimicking synovial osteochondromatosis has not been reported before. In this article, the authors describe an unusual case mimicking synovial chondromatosis arising as a result of melorheostosis and their characteristic imaging findings.
Topics: Chondromatosis, Synovial; Diagnosis, Differential; Female; Humans; Knee Joint; Magnetic Resonance Imaging; Melorheostosis; Middle Aged
PubMed: 25971832
DOI: 10.5144/0256-4947.2014.547 -
Clinical Cases in Mineral and Bone... 2016Hereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare... (Review)
Review
Hereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare autosomal dominant disorder, mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate (HS) synthesis, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved. The aim of this paper is to encounter the main aspects of HME reviewing the literature, in order to improve clinical features and evolution, and the metabolic-pathogenetic mechanisms underlying. Although MHE may be asymptomatic, a wide spectrum of clinical manifestations is found in paediatric patients with this disorder. Pain is experienced by the majority of patients, even restricted motion of the joint is often encountered. Sometimes exostoses can interfere with normal development of the growth plate, giving rise to limb deformities, low stature and scoliosis. Other many neurovascular and associated disorders can lead to surgery. The most feared complication is the malignant transformation of an existing osteochondroma into a secondary peripheral chondrosarcoma, during adulthood. The therapeutic approach to HME is substantially surgical, whereas the medical one is still at an experimental level. In conclusion, HME is a complex disease where the paediatrician, the geneticist and the orthopaedic surgeon play an interchangeable role in diagnosis, research and therapy. We are waiting for new studies able to explain better the role of HS in signal transduction, because it plays a role in other bone and cartilage diseases (in particular malignant degeneration) as well as in skeletal embryology.
PubMed: 27920806
DOI: 10.11138/ccmbm/2016.13.2.110 -
Cureus Jul 2021We describe the case of a 20-year-old man who presented with a bony swelling over the medial proximal tibia that caused pain along the pes anserinus tendons, and a...
We describe the case of a 20-year-old man who presented with a bony swelling over the medial proximal tibia that caused pain along the pes anserinus tendons, and a history of multiple asymptomatic bony swellings. Wide extraperiosteal resection of the swelling relieved the symptoms with a good outcome within a year. This report describes the pictorial pathoanatomy of a relatively rare association of pes anserinus syndrome caused by osteochondroma in an adult patient. Proximal tibial osteochondromas can also present as pes anserinus syndrome in adult patients with diaphyseal aclasis. Large swellings require wide excision to relieve the stretching pain of pes tendons.
PubMed: 34430155
DOI: 10.7759/cureus.16548 -
Genes Nov 2022Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal...
Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic variants in two tumor suppressor genes, and In this work, we report a cross-sectional study including 35 index patients and 20 affected family members. Clinical phenotyping of all 55 affected cases was obtained, but genetic studies were performed only in 35 indexes. Of these, a total of 40% ( = 14) had a family history of MO. Clinical severity scores were class I in 34% (:18), class II in 24.5% (:13) and class III in 41.5% (:22). Pathogenic variants were identified in 83% (29/35) probands. We detected 18 (62%) in and 11 (38%) in . Patients with variants showed a height z-score of 1.03 SD lower than those with variants and greater clinical severity (II-III vs. I). Interestingly, three patients showed intellectual impairment, two patients showed a dual diagnosis, one Turner Syndrome and one hypochondroplasia. This study improves knowledge of MO, reporting new pathogenic variants and forwarding the worldwide collaboration necessary to promote the inclusion of patients into future biologically based therapeutics.
Topics: Humans; Exostoses, Multiple Hereditary; Cross-Sectional Studies; N-Acetylglucosaminyltransferases; Mutation; Genetic Testing
PubMed: 36360300
DOI: 10.3390/genes13112063 -
Journal of Comparative Pathology Aug 2023Feline osteochondromatosis is a spontaneous osteocartilaginous exostosis associated with feline leukaemia virus (FeLV) infection or due to a frameshift variant in the...
Feline osteochondromatosis is a spontaneous osteocartilaginous exostosis associated with feline leukaemia virus (FeLV) infection or due to a frameshift variant in the exostosin glycosyltransferase 1 (EXT1) gene. Osteochondromatosis was diagnosed in an indoor-only, 12-year-old, neutered female, Russian Blue cat. Radiographs revealed bilateral calcified proliferations in the elbow, costochondral and sternochondral joints, which distorted the normal skeletal structure. Grossly, the proliferated joints presented with consistent, rounded masses, causing complete ankylosis. The main histopathological finding was an osteocartilaginous proliferation composed of multiple irregular islands of well-differentiated hyaline cartilage surrounded and delimited by osteoid tissue. Immunohistochemistry of the osteochondromas, bone marrow and mediastinal lymph nodes, using a primary anti-FeLV gp70 antibody, and FeLV proviral DNA real-time polymerase chain reaction on bone marrow were negative. Sequencing of exon 6 of the EXT1 gene was performed and nucleotide BLAST analysis demonstrated the absence of a frameshift variant. This study reports the only case of spontaneous feline osteochondromatosis in an animal more than 10 years old.
Topics: Female; Cats; Animals; Leukemia Virus, Feline; Osteochondromatosis; Leukemia, Feline; Exons; Ankylosis; Cat Diseases
PubMed: 37597496
DOI: 10.1016/j.jcpa.2023.07.003 -
Cureus Feb 2023Synovial chondromatosis is a rare, benign, and metaplastic cause of joint swelling resulting in the formation of cartilaginous nodules in the joint space. It is usually...
Synovial chondromatosis is a rare, benign, and metaplastic cause of joint swelling resulting in the formation of cartilaginous nodules in the joint space. It is usually an oligoarticular disorder of large joints that typically manifests in the third to fifth decade of life. Synovial chondromatosis can be primary or secondary depending on whether an underlying etiology can be identified. Diagnosis can be made using imaging studies of the affected joint and confirmed on histopathology. Management of synovial chondromatosis can be done arthroscopically or surgically. We present a case of a 23-year-old male who presented with a long history of right knee pain, swelling, and limitation in range of motion. An X-ray of the knee showed multiple intra-articular and soft tissue calcifications. Due to the limitations of our setting, we proceeded with an open biopsy. During arthrotomy, clear straw-colored fluid with multiple nodules of varied sizes was found. A google image search helped put us in the direction of the diagnosis of synovial chondromatosis. We did a complete evacuation of loose bodies and a biopsy of synovium, which confirmed the diagnosis. The rarity of synovial chondromatosis results in a delay in the diagnosis. With the thoughtful application of resources and surgical principles, synovial chondromatosis can be safely and effectively managed in resource-limited settings.
PubMed: 36874332
DOI: 10.7759/cureus.34498 -
Cureus Jun 2022The single-bone forearm is a salvage technique for massive loss of bone due to serious trauma, malignant tumors, infections or congenital deformity. It is also...
The single-bone forearm is a salvage technique for massive loss of bone due to serious trauma, malignant tumors, infections or congenital deformity. It is also described to treat the sequelae of hereditary multiple exostoses disease that affects the distal end of the ulna. We present the case of a 29-year-old patient, operated for sequelae of hereditary multiple exostoses disease of the left forearm by a modified single-bone forearm technique. The patient, right-handed, operated on twice in childhood for a hereditary multiple exostoses disease of the left forearm: incomplete excision of the exostosis of the distal end of the ulna and lengthening of this last on external fixator, without improvement. The patient presented for a deformation of the left forearm with shortening compared to the right side. Significant limitation of prono-supination (pronation 15°, supination 20°). Elbow flexion at 110° and extension with deficit of 15°. Wrist flexion at 50° and extension at 50°, radial inclination at 25° and ulnar at 30°. The pain score was 3 according to the Visual Analogue Scale (VAS), especially on effort. Dash score was 31,82/100. We chose the forearm technique with a single bone. The immediate postoperative result found a realignment of the forearm, without neurological or vascular damages. Consolidation was obtained in four months. At five months, the patient recovered elbow flexion at 110° and full extension, wrist flexion at 45° and extension at 50°. Radial inclination at 20° and ulnar at 25°. The single-bone forearm technique has been described, not only for the treatment of hereditary multiple exostoses disease, but also for serious trauma or tumors with massive loss of bone. The technique generally consists of an osteotomy of the radius as well as the ulna, fixing the radius to the ulna creating a synostosis, with or without resection of part of one or both bones of the forearm. The most described complications of single-bone forearm procedure are pain, complications related to soft tissue secondary to the previous injury, and infections. The one-bone forearm remain a salvage technique for massive loss of bone of the forearm, or large deformities due to congenital malformations. This technique could allow the excision of massive bone and keep only a part of the ulna and the radius, with function maintenance and aesthetic forearm preservation.
PubMed: 35903567
DOI: 10.7759/cureus.26361 -
Medicina 2023
Topics: Humans; Exostoses, Multiple Hereditary; Spinal Canal
PubMed: 37379552
DOI: No ID Found