Osteochondromatosis: A rare clinical condition (original) (raw)
Related papers
A giant osteochondroma in a boy with multiple exostoses
Prilozi, 2011
Hereditary multiple exostoses (HME) is an inherited autosomal dominant disorder characterised by the presence of multiple exostoses, in fact benign cartilaginous tumors (enchondromata on the long bones). A six-year-old boy was found to have multiple osteochondromas on the legs, arms and ribs. Unusually, one of the osteochondromas on the right arm was huge (5 x 6 cm) and painful. X ray confirmed the benign nature of the osteochondromas. The family history was uneventful as well as the pregnancy and delivery. His intelligence is normal, and ultrasound did not detect any anomalies of the heart or kidneys. The occurrence of a large osteochondroma in a young boy is rare. In spite of its size and growth the lesion is so far benign. Frequent follow-up is recommended for the timely detection of eventual malignant transformation.
Giant Osteochondroma of Tibia in a Case of Hereditary Multiple Exostoses: A Case Report
https://www.ijrrjournal.com/IJRR\_Vol.10\_Issue.3\_March2023/IJRR-Abstract41.html, 2023
Osteochondromas, aka exostoses, are benign neoplasms of the cartilage. Genetic mutations of the EXT1 and EXT2 genes leads to a syndrome causing multiple osteochondromas, namely the hereditary multiple exostoses. Among the complications related to multiple osteochondromas, malignant degeneration into chondrosarcoma has the worst prognosis. Sudden enlargement of size of an osteochondroma or sudden onset of pain at the site of previous osteochondroma in a skeletally mature patient is concerning for malignant transformation. However, the size criterion does not apply for skeletally immature individuals, as observed in the case report here. The imaging of an uncommonly large osteochondroma of the extremity in a skeletally immature patient with hereditary multiple exostoses has been described here. Normal thickness of the cartilage cap (<3cm) proved the benignity of the lesion on imaging, thereby nullifying the size criterion in the skeletally immature.
Case Reports in Orthopedics, 2018
Introduction. Multiple hereditary exostoses (MHE) is a rare autosomal dominant disorder characterized by the presence of multiple skeletal deformities. They are painless slow-growing lesions. Malignant transformation tends to occur later in adulthood and has only been seen in 1–5% of patients. Objective. We describe the clinical, radiological, and pathological characteristics of a child with MHE who developed osteoblastic osteosarcoma beneath an osteochondroma. Case Presentation. An 11-year-old male Rwandan presented to our hospital with a two-week history of a dull persistent pain in his left distal femur and loss of weight and appetite. There was no relief with pain killers. He was a known case of multiple hereditary exostoses diagnosed at age 3. He began experiencing mild symptoms 6 months prior to admission which worsened in the last two weeks prior to his admission. On examination, he had multiple palpable bony swellings bilaterally on the proximal humeri and distal femurs. X-r...
Journal of Chiropractic Medicine, 2017
Objective: The purpose of this report was to describe the presentation of a patient with hereditary multiple exostoses and thoracic spinal cord compression from an osteochondroma. Clinical Features: A 31-year-old female presented to a chiropractic clinic with a history of hereditary multiple exostoses and back pain that had existed since the age of 16 years. She had a past medical history that was remarkable for 3 prior surgeries for mass removal. Examination revealed a left upper midscapular mass with decreased sensation. Intervention/Outcome: Magnetic resonance imaging, computed tomography, and biopsy led to a diagnosis of osteochondroma. These diagnostic modalities confirmed that there was no malignant degeneration. Initial magnetic resonance imaging revealed a large expansive lesion involving the left posterior elements at the region of T3-T4. Subsequent thoracic hemilaminectomy and resection of the spinal tumor with posterior instrumentation and stabilization from T2-T5 resulted in 90% overall subjective improvement. Conclusions: A detailed case history, thorough examination, guided advanced imaging, and biopsy provide important information for the diagnosis and appropriate treatment of expansive lesions in patients with hereditary multiple exostoses.
Malignant Degeneration of an Osteogenic Exostosis in Multiple Exostatic Disease (About a Case)
SAS Journal of Medicine
Introduction: Osteochondroma, otherwise known as osteogenic exostosis, is a benign surface tumor; it develops from an enchondral ossification bone, which and in contact with the epiphysis. Its most dreadful complication is chondrosarcoma. The aim: of our observation is to report a rare and dreadful complication of osteochondroma. Observation: This is an 08 year old female patient, without any particular pathological history, who consulted for a painful swelling of the lower extremity of the left thigh with a chronic evolution. Conclusion: Once the diagnosis of exostosis is made, an annual radiological control is mandatory. Carcinological resection is mandatory as soon as malignant transformation is suspected.
International classification of osteochondrodysplasias
American Journal of Medical Genetics, 1992
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Journal of Clinical Pathology, 2002
A 40 year old man with hereditary multiple exostoses (HME), affecting predominantly his left proximal tibia, distal femur, and proximal femur, underwent resection of an osteochondroma near the trochanter major of his left proximal femur because of malignant transformation of the cartilaginous cap towards secondary peripheral chondrosarcoma. The patient had a history of a papillary thyroid carcinoma four years previously. At examination of the resected specimen, a third malignant tumour, an intermediate grade osteosarcoma (grade II/IV), was found in the osseous stalk of the osteochondroma. Although no mutations were found in the EXT1 and EXT2 genes, the genes involved in HME, or in exons 5-8 of the p53 gene, the development of three malignancies before the age of 40 suggests that this patient is genetically prone to malignant transformation.
OSTEOCHONDROMA OF DISTAL FEMUR.
A 46 year old male presented with ? painful non mobile, bony hard swelling of lower end of Right femur of 20 years duration. The swelling was present since 20 years with progressive increase in size of the swelling and pain on knee movements since last 1 year. Clinical examination revealed a bony hard swelling arising from anteromedial aspect of lower end of femur away from the knee joint. The swelling was painful on knee flexion of more than 90 degrees. Range of motion of knee 0 to 120 degree. X Rays revealed aexostosis arising from lower end of femur with a fungating mass at the cartilaginous cap abutting the skin. A diagnosis of exostoses lower end femur with possible malignant transformation was made. In view of sudden increase in size of the lesion and associated pain on knee movements, and mechanical obstruction Patient underwent surgical excision of the exostoses .Histopathology revealed osteochondroma& no malignant transformation.
Multiple exostoses in child—a report of ten cases
European Journal of Orthopaedic Surgery and Traumatology, 2003
Hereditary multiple exostoses, or Bessel-Hagen disease, is an autosomal-dominant disorder causing serious progressive skeletal deformities in children, with no negligible risk of sarcomatous transformation. The authors repot a study of ten cases, managed over 10 years, in the pediatric orthopedics department in Rabat, Morocco. Patients were six boys and four girls aged 3–16 years, presenting with aesthetic concerns and pain at diagnosis; eight had bony distortions. Bone localizations were multiple, evident in several skeletal sites. In two patients, the extent of the disorder was generalized. Surgical treatment was necessary in eight cases (80%); no case of sarcomatous degeneration was noted. The aims of this study were to analyze different clinical, therapeutic, and developmental aspects of this pathologyin which the prognosis is dependent on localization. L'exostose multiple ou maladie de Bessel – Hagen est une affection autosomique dominante, responsable dans sa forme grave chez l'enfant, de divers troubles esthétiques et de croissance, avec un risque non négligeable de transformation sarcomateuse tardivement. Les auteurs rapportent une série de 10 cas, pris en charge sur une période de 10 ans au service d'orthopédie infantile à Rabat, Maroc. Ce sont 6 garçons et 4 filles âgés de 03 à 16 ans, présentant tous une gêne esthétique et des douleurs lors du diagnostic, avec chez 8 d'entre eux des déformations osseuses. L'atteinte osseuse était multiple intéressant plusieurs localisations squelettiques, chez deux malades l'atteinte était généralisée. Le traitement chirurgical a été nécessaire chez 8 malades ( 80% ), aucun cas de dégénérescence maligne n'est noté. A travers cette série les auteurs analysent les différents aspects cliniques, thérapeutiques et évolutifs de cette pathologie qui sont étroitement liés à la topographie lésionnelle.