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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 -
Advances in Orthopedics 2014The aim of this study is to systematically review the literature with regards to surgical treatment of patients with hip joint osteochondromas, and to report our... (Review)
Review
The aim of this study is to systematically review the literature with regards to surgical treatment of patients with hip joint osteochondromas, and to report our surgical management of three paediatric patients who had femoral neck or acetabular osteochondromas in association with acetabular dysplasia. We performed a systematic review using PubMed and Embase databases for all studies that reported surgical treatments for patients with peritrochanteric or acetabular osteochondroma with or without acetabular dysplasia. We also retrospectively reviewed three patients who were diagnosed with a hip osteochondroma in association with actetabular dysplasia. These patients were known to have hereditary multiple exostoses (HME). The systematic review revealed 21 studies that met our inclusion criteria. All studies were case reports and retrospective in nature and failed to conclude a uniform treatment plan. The three reported cases illustrate successful excision of hip osteochondromas and treatment of acetabular dysplasia. Early excision of hip osteochondromas might prevent acetabular dysplasia in HME patients. Routine radiographic pelvic survey at the time of diagnosis of HME is recommended for early detection of hip osteochondromas and acetabular dysplasia in these children.
PubMed: 24963411
DOI: 10.1155/2014/180254 -
Danish Medical Journal Sep 2014Hereditary multiple cartilaginous exostoses is a syndrome characterised by the development of multiple osteochondromas. The diagnosis is typically made around the age of... (Review)
Review
INTRODUCTION
Hereditary multiple cartilaginous exostoses is a syndrome characterised by the development of multiple osteochondromas. The diagnosis is typically made around the age of 12 years, and the prevalence is estimated at 1:50,000. During skeletal growth, the osteochondromas are benign, but in adult life malignant transformation into chondrosarcomas can occur.
METHODS
This study was a literature survey based on a systematic search of the PubMed database for articles with the term "hereditary multiple exostoses chondrosarcoma". The search returned 157 articles, of which 13 had a sufficient level of evidence. These publications were examined thoroughly, focusing on the development of sarcomas, symptoms and the risk of malignant degeneration.
RESULTS
There is no consensus regarding the frequency of malignant transformation of multiple cartilaginous exostoses into sarcomas, which varies from less than 1% to 25%. The most reliable estimation seems to be 1-2%. The survey of the literature shows that no risk groups can be identified. However, exostoses in the axial skeleton are more prone to develop into chondrosarcomas than peripheral exostoses.
CONCLUSION
It is indisputable that malignant transformation occurs, and we therefore propose that a follow-up programme be launched with clinical examination by magnetic resonance imaging or bone scintigraphy every second year. The purpose of such programme would be to discover the sarcomatous development as early as possible to improve the survival prognosis of the patients. This screening programme should be centralised at tumour departments.
Topics: Bone Neoplasms; Cell Transformation, Neoplastic; Chondrosarcoma; Early Detection of Cancer; Exostoses, Multiple Hereditary; Humans; Precancerous Conditions
PubMed: 25186537
DOI: No ID Found -
Cureus Jul 2021Hereditary multiple exostoses (HME) are an autosomal dominant skeletal disorder characterized by the development of multiple benign osteochondromas (exostoses) that... (Review)
Review
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.
PubMed: 34395113
DOI: 10.7759/cureus.16326 -
The Open Orthopaedics Journal 2017Synovial chondromatosis (SCh) can undergo malignant transformation. Pathologic diagnosis of secondary synovial chondrosarcoma (SChS) is challenging and misdiagnosis may...
BACKGROUND
Synovial chondromatosis (SCh) can undergo malignant transformation. Pathologic diagnosis of secondary synovial chondrosarcoma (SChS) is challenging and misdiagnosis may result in over- or undertreatment.
METHOD
A systematic review revealed 48 cases of SChS published in 27 reports since 1957. Data was collected to identify findings indicative of SChS and outcomes of treatment.
RESULTS
At median follow-up of 18 months, patients were reported as alive (10%), alive without disease (22%), alive with disease (15%), dead of disease (19%), dead of pulmonary embolism (4%), and unknown (29%). Initial diagnosis of SChS (grade: low/unknown 48%, intermediate/high 52%) was after biopsy in 58%, local resection in 29%, and amputation in 13%. Seventy-four percent of patients underwent 1.8 (mean) resections. Patients treated prior to 1992 were managed with amputation in 79% of cases compared to 48% after 1992. Symptoms were present for 72 mos prior to diagnosis of SChS. Synovial chondrosarcoma demonstrated symptom progression over several months (82%), rapid recurrence after complete resection (30%), and medullary canal invasion (43%). The SChS tumor dimensions were seldom quantified.
CONCLUSION
Malignant degeneration of synovial chondromatosis is rare but can necessitate morbid surgery or result in death. Pathognomonic signs for SChS including intramedullary infiltration are present in the minority of cases. Progression of symptoms, quick local recurrence, and muscle infiltration are more suggestive of SChS. Periarticular cortical erosion, extra-capsular extension, and metaplastic chondroid features are non-specific. Although poorly documented for SChS, tumor size is a strong indicator of malignancy. Biopsy and partial resection are prone to diagnostic error. Surgical decisions are frequently based on size and clinical appearance and may be in conflict with pathologic diagnosis.
PubMed: 28694891
DOI: 10.2174/1874325001711010517 -
Journal of Bone Oncology Nov 2018The most serious complication of hereditary multiple exostoses(HME) is chondrosarcoma transformation. Numerous authors have suggested that screening might allow early...
BACKGROUND
The most serious complication of hereditary multiple exostoses(HME) is chondrosarcoma transformation. Numerous authors have suggested that screening might allow early chondrosarcoma detection. However, literature-quoted incidences of malignant transformation are highly variable.
METHODS
A systematic review of malignant transformation by sex, exostosin-1 mutation(EXT1), age and site was conducted searching Medline, Embase and CINHAL. Three HME screening strategies were then developed and compared using cost per life-year gained and incremental cost-effectiveness ratio (ICER).
RESULTS
18 papers with 852 chondrosarcomas were identified. The incidence of chondrosarcoma transformation averaged 4%, 75.2% occurring between ages 20-40 and 56.2% at the pelvis and proximal femur. Screening model: In the general HME population, plain radiographs provided cost per life-year gain of £19,013 compared to £53,392 in MRIs. ICER in MRIs compared to X-rays was £80,218. However, for every generation of HME patients screened over 20 years, X-ray radiation induced 0.65 cancers. Psychological effects of false-positives were marginal. Screening only higher-risk groups (males or EXT1) reduced cost but benefited fewer patients.
CONCLUSIONS
Our results suggest that annual MRI screening for all HME patients between age 20-40 may be of value. However, the extent of anatomical imaging is subject to debate; it is possible that focused imaging protocols which scan from cervical spine to proximal femur may improve cost-effectiveness.
PubMed: 30591865
DOI: 10.1016/j.jbo.2018.09.011 -
Surgical Neurology International 2023Hereditary multiple osteochondromas (HMOs) are a rare genetic disorder characterized by the formation of multiple benign osteochondromas that can undergo malignant...
BACKGROUND
Hereditary multiple osteochondromas (HMOs) are a rare genetic disorder characterized by the formation of multiple benign osteochondromas that can undergo malignant transformation into chondrosarcoma.
CASE DESCRIPTION
A 24-year-old male with a history of HMO and osteochondroma surgery 4 years ago, presented with back pain and paresthesias. The magnetic resonance showed a right paravertebral infiltrating mass at the T12-L1 level causing spinal cord compression. Following resection of the tumor, the patient's symptoms/ signs resolved. The final pathological diagnosis was consistent with a chondrosarcoma.
CONCLUSION
Chondrosarcomas secondary to HMO with spinal cord compression are rare. These patients often presenting with significant myelopathy/cord compression should undergo gross total resection where feasible to achieve the best outcomes.
PubMed: 38053698
DOI: 10.25259/SNI_797_2023