Intrathecal Fentanyl Pump Placement in a Patient With Chronic Pain Caused by Hereditary Multiple Exostoses: A Case Report.

Hereditary multiple exostoses (HME) is a genetic disorder defined by the formation of benign bone tumors known as exostoses, which can lead to chronic pain and functional impairment. This case report details a 57-year-old man with a long-standing history of severe diffuse bone pain attributed to HME. Despite various treatments, his pain remained poorly controlled until an intrathecal pump with fentanyl was implanted.

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Hereditary multiple exostoses is a rare congenital condition with autosomal dominant inheritance. It consists of formation of osteocartilaginous exostoses, most commonly from the metaphysis of long bones. Surgery is the main treatment as there is no available medical treatment.

An Unusual Presentation of Costal Intraspinal Osteochondroma Causing Compressive Myelopathy in a Patient With Hereditary Multiple Exostoses: A Case Report and Literature Review.

A 22-year-old man presented to us with back pain for four months, inability to walk, and weakness in both lower limbs. Clinical examination revealed multiple swellings in the body, motor weakness, paresthesia, and upper motor neuron signs. Both magnetic resonance imaging (MRI) and computed tomography (CT) revealed an abnormal bone mass protruding into the spinal canal from the posterior aspect of the ninth rib through the D9-D10 neural foramen.

Hereditary Multiple Exostoses with Rare Ocular Finding: A Case Report.

Purpose: To study rare ocular findings in a rare case of hereditary multiple exostoses (HME) and to study HME in one family.

Methods: HME is an autosomal dominant genetic disease characterized by the presence of multiple exostoses (osteochondromas). It is caused by mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2).

Predictors of Radial Head Dislocation in Patients with Multiple Hereditary Exostoses.

Radial head dislocation in patients with multiple hereditary exostoses (MHE) is associated with loss of function and cosmetic problems. The treatment of the deformity with radial head dislocation is difficult and the timing of surgical intervention is important. The aim of this study was to evaluate the factors predictive of radial head dislocation in patients with MHE.

A New Classification System for Forearm Deformities Caused by Hereditary Multiple Osteochondromas.

Purpose: The objective of this study was to evaluate the Masada and Jo classifications for clinical use in patients with forearm deformity caused by hereditary multiple osteochondroma and propose a new classification system that is all-inclusive and can guide clinical management.

Methods: A retrospective review of 275 forearms was performed. A split-sample approach was used, where 138 forearms were analyzed to create a new classification, which was then validated on the remaining 137 forearms.

Successful treatment of forelimb osteochondroma in a ferret (Mustela putorius furo).

A 1-year-old male neutered ferret (Mustela putorius furo) was evaluated for an abnormal left cubital joint. Radiographs demonstrated a proliferative osseous lesion of the left proximal antebrachium. Computed tomography confirmed a large thin-walled expansile osseous lesion of the left proximal radius and identified multifocal proliferative lesions of the axial spine, two of which caused spinal cord compression.

Pain and fatigue in adult patients with multiple osteochondromas: The Netherlands.

Background: Multiple Osteochondromas (MO) is a rare genetic disorder characterised by the presence of numerous benign bone tumours, known as osteochondromas. Within the spectrum of debilitating symptoms associated with MO, pain is recognized as a major problem. Interestingly, our clinical observations suggest that fatigue is also a significant concern but has merely been touched upon in MO literature.

Mutations in LIFR rewire the JAK/STAT signaling pathway: A study unveiling mechanistic details of Stüve-Wiedemann syndrome.

Stüve-Wiedemann syndrome (SWS), a rare autosomal recessive disorder, characterized by diminutive size, curvature of the elongated bones, bent fingers, episodes of heightened body temperature, respiratory distress or periods of breath-holding, and challenges with feeding, especially causes fatality in infants. SWS is an outcome of potential missense mutations in the leukemia inhibitory factor receptor gene reflected as numerous amino acid mutations at protein level. Employing in silico tools and techniques like mutational screening with Pred_MutHTP, I-Mutant2.

Peroneal Nerve Decompression in Patients with Multiple Hereditary Exostoses: Indications, Complications, and Recurrence.

Background: To our knowledge, there have been no studies examining peroneal nerve decompression and proximal fibular osteochondroma excision exclusively in patients with multiple hereditary exostoses (MHE). The purpose of this study was to evaluate the indications, complications, and recurrence associated with nerve decompression and proximal fibular osteochondroma excision in patients with MHE.

Methods: The records on patients with MHE undergoing peroneal nerve decompression from 2009 to 2023 were retrospectively reviewed.

Multiple Hereditary Exostoses instigating a popliteal pseudoaneurysm in a young Middle Eastern male: A case report and literature review.

Introduction And Importance: Multiple Hereditary Exostoses is a rare autosomal dominant bone disorder that predominantly affects males at an incidence of (1:50,000 to 1:100,000) in Western populations. The etiology is owed to mutations in the EXT gene group, specifically EXT1 and EXT2 which cause the formation of Osteochondromas. Diagnosis is typically established in childhood.

A Rare Case of Hereditary Multiple Exostoses in a Woman.

Hereditary multiple exostosis (HME) is a rare genetic disorder characterized by multiple bony spurs or lumps, commonly affecting the long bones. This case report exposes the clinical presentation, diagnosis, and management of HME in a 28-year-old female nurse, who initially presented with persistent bilateral knee pain. After extensive evaluation involving orthopaedic and oncology specialists, the diagnosis of HME was made.

Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study.

Purpose: To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients.

Methods: A cross-sectional, observational study was conducted from May to December 2022 during the routine visit to the referral center for rare skeletal disorders. All patients with Multiple Osteochondromas aged ≥ 3 years were included.

Hemiepiphysiodesis for Genu Valgum in Patients With Multiple Hereditary Exostoses.

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.

Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.

Background: Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication is the secondary peripheral chondrosarcoma, a malignant cartilaginous neoplasm that arises from the chondroid cap of pre-existent osteochondromas. We conducted a retrospective cohort study on patients diagnosed and followed up from 1960 to 2019 to describe the clinical and pathological features of individuals affected by peripheral chondrosarcoma in multiple osteochondromas, to evaluate follow up information and individual outcome and to compare the results with literature.