32 year old female with known Multiple Hereditary Osteochondromatosis presenting with hip pain.
A 32 year old patient with Multiple Hereditary Osteochondromatosis known since her childhood, presented with right hip pain. An X-ray was performed to evaluate a right femoral osteochondroma and did not show obvious changes when compared with previous exams. CT and MR were also performed to evaluate this lesion.
Multiple hereditary osteochondromatosis (MHO) is a hereditary autosomal dominant disorder, characterized by the development of multiple osteochondromas. Approximately 2/3 of affected individuals have a positive family history. The histopathologic features of multiple osteochondromas are the same as those of solitary lesions. The radiographic appearance is often diagnostic and reflects its pathologic characteristics: a cartilage-capped bony projection on the external surface of a bone with cortical and medullar continuity.The multiplicity of lesions and associated deformity, particularly with severe involvement, lead to an early radiologic detection and diagnosis. Most patients are diagnosed by the age of 5 years. The knees, hips, ankles and shoulders are the most frequently affected locations. The skeletal distribution of lesions varies, some authors report bilateral symmetric distribution and others a unilateral predominance. Although radiography is often diagnostic, additional imaging modalities including ultrasonography (US), computed tomography (CT) and magnetic resonance (MR) imaging are frequently employed in the evaluation of these lesions. In MHO both pedunculated and sessile osteochondromas coexist. The percentage of sessile osteochondromas correlates with the extent and severity of deformities. Growth abnormalities are primarily seen in the forearms and legs. Other complications are also commonly associated with these exophytic masses including fractures, vascular/ neurologic compromise and malignant transformation. Malignant transformation are more common and have an earlier onset (at 25-30 years) in MHO compared to the single osteochondromas. This may happen in up to 5-15% of cases, with higher incidence in centrally located lesions on shoulders, hips and pelvis. The malignant transformation is almost invariably due to a chondrosarcoma arising in the cartilage cap of the lesion, although rare cases of osteosarcomas have been reported. Lesions that grow or cause pain after skeletal maturity (in the absence of fracture, bursitis or pressure on nearby nerves) are highly suspicious of malignant transformation, since osteochondromas only rarely enlarge after skeletal maturity. Other radiologic findings suggesting malignization include development of a bulky cartilaginous cap (2-3 cm thick), dispersed calcifications in the cartilaginous cap, and development of a soft tissue mass. CT often allows optimal depiction of the pathognomonic cortical and marrow continuity of the lesion and parent bone, particularly for lesions in complex areas of anatomy, such as the pelvis or spine, and for those with a broad stalk of attachment. CT is very accurate evaluating mineralization of the cartilage cap. MR imaging also demonstrates cortical and medullar continuity and is particulary useful in complex areas of anatomy. It is the radiologic modality best suited for visualizing the effect of the lesion on surrounding structures and allows accurate measurement of the hyaline cartilage cap. US enables measurement of the thickness of the hyaline cartilage cap but can not evaluate deep lesions inaccessible to the probe nor the osseous components of the lesion. Multiple osteochondromas are to be treated individually wiyh larger, symptomatic or suspicious lesions beeing resected at their base. The overall recurrence rate after resection is higher in younger patients.
Multiple hereditary osteochondromatosis
1. On the pelvis AP (anteroposterior) X-ray, multiple bony protrusions can be observed in both iliac bones, proximal femurs, and surrounding areas. These protrusions present as exostosis-like changes, some pedunculated and some sessile, demonstrating the continuity of cortex and medullary cavity with the parent bone.
2. Similar bony prominences can be seen in the shoulder and proximal humerus X-ray, which also show continuity between the lesion and the host bone’s cortex and marrow cavity.
3. Bilateral knee X-rays reveal multiple scattered exostoses. Some have uneven densities on their surfaces, which aligns with the known characteristics of hereditary multiple osteochondromas (osteochondromas).
4. CT images clearly depict the continuity in both cortex and medullary cavity between these exostoses and the host bone, and the local cartilage cap seems relatively thin without a significant soft tissue mass.
5. MRI shows cartilaginous signal in the relevant areas with a measurable cartilage cap thickness. At present, no significant thickening or abnormal signal suggesting malignant transformation is observed, nor are there signs of surrounding tissue invasion.
Considering the patient's age (32-year-old female), the previously established diagnosis of Multiple Hereditary Osteochondromas (also known as Multiple Hereditary Exostoses), and current X-ray, CT, and MRI findings of multiple characteristic exostoses with continuity of cortex and medullary cavity, without obvious local bony destruction or significant thickening of the cartilage cap, the most likely diagnosis remains: Multiple Hereditary Osteochondromas (MHO), with no clear imaging evidence of malignant transformation at present.
1. Conservative Management: For osteochondromas that are asymptomatic or mildly symptomatic, regular follow-up is recommended, including:
2. Surgical Indications:
3. Rehabilitation and Exercise Prescription (FITT-VP Principle):
Disclaimer: This report is a reference analysis based on the provided information and cannot replace an in-person consultation or professional medical advice. If you have any questions or changes in symptoms, please seek medical attention promptly.
Multiple hereditary osteochondromatosis
