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Enchondroma
Micrograph of an enchondroma. H&E stain.

Enchondroma is a type of benign bone tumor belonging to the group of cartilage tumors.[1][2] There may be no symptoms,[3] or it may present typically in the short tubular bones of the hands with a swelling, pain or pathological fracture.[4]

Diagnosis is by X-ray, CT scan and sometimes MRI.[4] Most occur as a less than three centimetre size single tumor. When several occur in one long bone or several bones, the syndrome is called enchondromatosis.[4]

Where there are no symptoms, treatment is often not needed.[4] If treatment is required, curettage may be performed.[4] Less than 1% become malignant, unless part of a syndrome.[4]

They comprise around 30% of cartilage tumors.[5] 90% of tumors in the hand are enchondromas.[6]

Symptoms and signs

[edit]
X-ray showing an enchondroma in the femur.
MRI T1 showing an enchondroma in the femur.

Individuals with an enchondroma often have no symptoms at all. The following are the most common symptoms of an enchondroma. However, each individual may experience symptoms differently. Symptoms may include:[citation needed]

  • Pain that may occur at the site of the tumor if the tumor is very large, or if the affected bone has weakened causing a fracture of the affected bone
  • Enlargement of the affected finger
  • Slow bone growth in the affected area

The symptoms of enchondroma may resemble other medical conditions or problems.

Associated conditions

[edit]

An enchondroma may occur as an individual tumor or several tumors. The conditions that involve multiple lesions include the following:[citation needed]

  • Ollier disease (enchondromatosis) – when multiple sites in the body develop the tumors. Ollier disease is very rare.
  • Maffucci's syndrome – a combination of multiple tumors and angiomas (benign tumors made up of blood vessels).

Cause

[edit]

While the exact cause of enchondroma is not known, it is believed to occur either as an overgrowth of the cartilage that lines the ends of the bones, or as a persistent growth of original, embryonic cartilage.[citation needed]

Pathophysiology

[edit]

Enchondroma is a type of benign bone tumor that originates from cartilage. The exact etiology of it is not known. An enchondroma most often affects the cartilage that lines the inside of the bones. The bones most often involved with this benign tumor are the miniature long bones of the hands and feet. It may, however, also involve other bones such as the femur, humerus, or tibia. While it may affect an individual at any age, it is most common in adulthood. The occurrence between males and females is equal. It is not very likely that the enchondroma will grow back in the same spot; the rate is less than ten percent.[citation needed]

Diagnosis

[edit]

Because an individual with an enchondroma has few symptoms, diagnosis is sometimes made during a routine physical examination, or if the presence of the tumor leads to a fracture. In addition to a complete medical history and physical examination, diagnostic procedures for enchondroma may include the following:[citation needed]

  • X-ray – On plain film, an enchondroma may be found in any bone formed from cartilage. They are lytic lesions that usually contain calcified chondroid matrix (a "rings and arcs" pattern of calcification), except in the phalanges. They may be central, eccentric, expansile or nonexpansile.

Differentiating an enchondroma from a bone infarct on plain film may be difficult. Generally, an enchondroma commonly causes endosteal scalloping while an infarct will not. An infarct usually has a well-defined, sclerotic serpentine border, while an enchondroma will not. When differentiating an enchondroma from a chondrosarcoma, the radiographic image may be equivocal; however, periostitis is not usually seen with an uncomplicated enchondroma.[citation needed]

  • radionuclide bone scan – a nuclear imaging method to evaluate any degenerative and/or arthritic changes in the joints; to detect bone diseases and tumors; to determine the cause of bone pain or inflammation. This test is to rule out any infection or fractures.
  • magnetic resonance imaging (MRI)[7] – a diagnostic procedure that uses a combination of large magnets, radiofrequencies, and a computer to produce detailed images of organs and structures within the body. This test is done to rule out any associated abnormalities of the spinal cord and nerves.
  • computed tomography scan (Also called a CT or CAT scan.) – a diagnostic imaging procedure that uses a combination of x-rays and computer technology to produce cross-sectional images (often called slices), both horizontally and vertically, of the body. A CT scan shows detailed images of any part of the body, including the bones, muscles, fat, and organs. CT scans are more detailed than general x-rays.

Treatment

[edit]

Specific treatment for enchondroma is determined by a physician based on the age, overall health, and medical history of the patient. Other considerations include:

  • extent of the disease
  • tolerance for specific medications, procedures, or therapies
  • expectations for the course of the disease
  • opinion or preference of the patient

Treatment may include:

  • surgery (in some cases, when bone weakening is present or fractures occur)
  • bone grafting – a surgical procedure in which healthy bone is transplanted from another part of the patient's body into the affected area.

If there is no sign of bone weakening or growth of the tumor, observation only may be suggested. However, follow-up with repeat x-rays may be necessary. Some types of enchondromas can develop into malignant, or cancerous, bone tumors later. Careful follow-up with a physician may be recommended.

See also

[edit]

References

[edit]
[edit]
Revisions and contributorsEdit on WikipediaRead on Wikipedia

Enchondroma

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from Grokipedia
An enchondroma is a consisting of that arises within the of bones formed by , typically presenting as a solitary, discovered incidentally on imaging. It is the most common primary of the hand and accounts for approximately 13% of all benign bone tumors, with a peak incidence between the second and third decades of life. Enchondromas most frequently occur in the small bones of the hands and feet, particularly the proximal phalanges, though they can also develop in longer bones such as the , , , and . The etiology remains unknown but may involve persistent growth plate chondrocytes or rare somatic mutations in genes like IDH1, IDH2, or PTHR1. While solitary enchondromas are common, multiple lesions are associated with rare syndromes: Ollier disease, characterized by multiple enchondromas affecting one side of the body with an estimated of 1 in 100,000, and Maffucci syndrome, which includes enchondromas alongside vascular malformations and has fewer than 200 reported cases worldwide. These syndromes increase the risk of skeletal deformities and pathologic fractures. Clinically, enchondromas are often painless and nonaggressive, but they may cause local swelling, mild , or pathologic fractures in 40% to 60% of symptomatic cases, particularly in bones. typically begins with radiographs revealing well-defined, lytic lesions with stippled calcifications in the , often described as having a "popcorn" appearance; advanced imaging such as CT or MRI helps evaluate for aggressive features, while provides histopathological confirmation showing mature lobules. Distinguishing enchondromas from low-grade chondrosarcomas can be challenging, as at rest or night may indicate . Treatment for asymptomatic enchondromas involves regular observation with serial imaging, as most remain stable and self-limited. Symptomatic lesions or those at risk of require surgical intervention, usually to remove the tumor followed by to fill the defect and prevent recurrence, which is rare in solitary cases but higher in syndromic or large lesions. The risk of malignant transformation to is low, less than 1% for solitary enchondromas, but significantly elevated in Ollier disease (up to 30%) and Maffucci syndrome (up to 50%), necessitating long-term monitoring. Recovery from surgery typically takes 3 to 7 weeks, depending on whether a is present, with an excellent overall for benign cases.

Introduction

Definition and Characteristics

An enchondroma is a benign, non-cancerous tumor composed of that develops within the of s. It arises from endochondral and is characterized by its indolent, slow-growing nature, typically remaining latent without aggressive expansion. Enchondromas are usually solitary and well-circumscribed, lobulated lesions measuring 1-10 cm in diameter. They most commonly occur in the small bones of the hands (approximately 60% of cases) and feet, with the proximal phalanges being particularly frequent sites; less often, they affect long bones such as the distal (20%), proximal (10%), and proximal . These tumors rarely cause symptoms unless they lead to structural compromise, such as in weight-bearing bones. Multiple enchondromas may occur in association with syndromes like Ollier disease. Histologically, enchondromas consist of mature arranged in lobules, exhibiting low cellularity, an abundant cartilaginous matrix, and absence of cellular or mitoses. Calcifications within the cartilage may be present, often appearing as punctate or ring-and-arc patterns on that correspond to dystrophic changes in the matrix.

Epidemiology

Enchondromas represent the second most common primary benign bone tumor after osteochondroma and account for approximately 10-25% of all benign bone tumors. These tumors exhibit a peak incidence between the ages of 20 and 50 years, with cases being rare before age 10 or after age 60; the male-to-female ratio is equal. No significant racial or geographic predilection has been reported. The vast majority of enchondromas—approximately 99%—occur as solitary lesions, while multiple enchondromas (known as enchondromatosis) are rare, comprising about 1% of cases and often associated with syndromes such as Ollier disease. Site-specific distribution shows a strong predilection for the small tubular bones of the hands and feet, with around 50-60% occurring in the hands (particularly the proximal phalanges) and 15-20% in the feet; the remaining cases, approximately 20-30%, involve proximal long bones such as the and .

Clinical Features

Symptoms and Signs

Enchondromas are typically asymptomatic, with the majority discovered incidentally during imaging studies performed for unrelated conditions such as trauma or joint pain. When symptomatic, which occurs in a minority of cases, patients most commonly experience mild pain related to , affecting approximately 20-30% of those presenting clinically, often triggered by a due to bone weakening. Swelling or a palpable mass may also be noted, particularly in the hands or feet where these tumors are most frequent, leading to visible enlargement of the affected digit. Signs of complications from enchondromas include bone weakening that can result in deformities, such as angular deviations in the fingers, reduced , or in the affected area. Persistent night pain or pain at rest serves as a critical red flag suggesting possible malignant transformation to , warranting further evaluation. On , a symptomatic enchondroma often presents as a non-tender, firm mass without associated systemic signs such as fever or . In cases associated with syndromes like Ollier disease, multiple lesions may exacerbate local symptoms including and .

Associated Syndromes

Enchondromas are occasionally associated with rare nonhereditary syndromes characterized by multiple lesions, distinguishing them from solitary tumors. The primary syndromes linked to enchondromas are Ollier disease and Maffucci syndrome, both arising from somatic mosaic mutations in the IDH1 or IDH2 genes during early development, leading to abnormal growth in affected tissues. Ollier disease, also known as multiple enchondromatosis, is defined by the presence of multiple enchondromas primarily located in the metaphyses of long bones, such as the , , and , as well as in the small bones of the hands and feet. These lesions typically manifest asymmetrically, often unilaterally, causing progressive skeletal deformities including limb length discrepancies, angular distortions, and due to uneven growth plate involvement. The condition has an estimated prevalence of 1 in 100,000 individuals and is usually diagnosed in childhood, with a median age of onset around 5 to 7 years, though growth stabilizes in early adulthood. Patients frequently experience functional limitations such as reduced mobility, abnormalities, and , necessitating orthopedic interventions for monitoring and correction; additionally, there is an approximate 30-40% lifetime risk of to , particularly in the or long bones. Maffucci syndrome combines the features of multiple enchondromas with benign soft-tissue and vascular malformations, such as hemangiomas, which appear as red or purplish growths on the skin or deeper tissues, often in the hands, feet, or viscera. Enchondromas in this syndrome are similarly distributed in the metaphyses of long bones and phalanges, leading to severe skeletal deformities, limb shortening, and pathological fractures, compounded by the vascular lesions that can cause pain, ulceration, or . It is rarer than Ollier disease, with fewer than 300 cases reported worldwide and an estimated prevalence under 1 in 100,000, typically presenting in childhood around age 6 to 11 years, with vascular anomalies emerging later. The syndrome's implications include heightened risks of both skeletal malignancies like (around 30-40%) and non-skeletal cancers, such as ovarian or tumors, approaching 50% overall lifetime risk, which underscores the need for comprehensive, lifelong multidisciplinary . Both syndromes result in asymmetric growth patterns and significant functional impairments, often requiring serial imaging and orthopedic management from , though they do not follow a familial pattern.

Etiology and Pathogenesis

Causes and Risk Factors

The of enchondroma is unknown, and these benign cartilage tumors are not associated with environmental exposures, trauma, radiation, or lifestyle factors such as or chemical agents. Genetic alterations represent a key etiological component, with somatic mutations in the IDH1 and IDH2 genes identified in 50% to 60% of solitary enchondromas and up to 80% to 87% of enchondromas in syndromic cases. Rare mutations in PTHR1 have also been identified in some enchondromas, particularly in Ollier disease. These heterozygous gain-of-function mutations, most commonly at codon R132 in IDH1 or R172 in IDH2, result in neomorphic enzymatic activity that produces the oncometabolite D-2-hydroxyglutarate, which disrupts epigenetic regulation and promotes aberrant proliferation. In solitary enchondromas, the mutations are postzygotic somatic events rather than , occurring sporadically without inheritance. From a developmental perspective, enchondromas arise due to dysregulation in , the process by which long bones form from a template during growth. Specifically, growth plate chondrocytes or chondroblasts proliferate but fail to undergo terminal differentiation, , or (), leading to their persistence as ectopic nodules within the . The primary risk factor for enchondroma is age, with peak incidence between 20 and 50 years, though lesions may be discovered incidentally across a broader range from childhood to later adulthood. Solitary enchondromas show no strong hereditary pattern and occur sporadically; in contrast, multiple enchondromas in syndromic forms like and stem from underlying genetic mosaicism, often involving IDH1 or IDH2 mutations.

Pathophysiology

Enchondromas develop from a disruption in , wherein cartilaginous remnants from the growth plate fail to undergo normal replacement by and instead persist as ectopic nodules within the intramedullary space. This process typically originates during childhood, with abnormal proliferation of chondrocytes leading to the formation of well-circumscribed lobules of mature that expand slowly within the of formed through . These lobules are often surrounded by a thin rim of reactive , and central regions may show punctate calcifications or myxoid degeneration, contributing to the tumor's indolent expansion without breaching the cortex. At the cellular level, enchondromas feature hypocellular tissue composed of uniform embedded in lacunae amid an abundant, matrix, exhibiting low mitotic activity and no significant cytologic . Somatic mutations in the IDH1 or IDH2 genes, detected in up to 50% of sporadic enchondromas, alter the enzymes' function to produce elevated levels of D-2-hydroxyglutarate, an oncometabolite that competitively inhibits α-ketoglutarate-dependent dioxygenases. This inhibition induces DNA hypermethylation and modifications that impair chondrocyte maturation and hypertrophic differentiation, thereby sustaining the survival and proliferation of undifferentiated cells. The tumors display a non-invasive, latent , remaining confined to the intramedullary space with no capacity for local tissue invasion or distant in their benign state. Gradual expansion of the lobules can attenuate the overlying cortical , heightening susceptibility to pathologic fractures, though the overall growth remains slow and asymptomatic for extended periods.

Diagnostic Approach

Imaging Studies

Plain radiographs serve as the initial imaging modality for suspected enchondroma, typically revealing a well-defined lytic with geographic margins located centrally within the of long bones, often in the or . Characteristic chondroid matrix calcifications, appearing as punctate stipplings, rings and arcs, or popcorn-like patterns, are often present. These calcifications are more common in long bones than in the small bones of the hands and feet, where lesions may appear purely lytic. While the absence of periosteal reaction, cortical disruption, or soft-tissue extension supports a benign . Pathologic fractures may occur in 40-60% of presentations, particularly in small bones like those of the hands and feet. Magnetic resonance imaging (MRI) provides superior soft-tissue contrast and is essential for characterizing the lesion's extent and differentiating it from more aggressive tumors. Enchondromas appear as lobulated, well-circumscribed masses with low to intermediate signal intensity on T1-weighted images and high signal on T2-weighted images, reflecting the cartilaginous composition, often with low-signal septations or rings corresponding to calcified matrix. Minimal or no perilesional is typical, and post-contrast enhancement is limited to thin peripheral rims or septa; significant surrounding or avid enhancement raises concern for . Computed tomography (CT) excels in delineating calcifications and bony architecture, showing the same chondroid matrix patterns as on radiographs along with any cortical thinning or mild endosteal scalloping. It is particularly valuable for preoperative planning by assessing lesion margins and excluding subtle cortical breaches or matrix irregularities that might suggest malignancy. studies, such as or (PET), demonstrate mild to moderate radiotracer uptake in enchondroma, often comparable to or less than the anterior superior , aiding in evaluation of multifocal disease in syndromes like Ollier disease. In contrast, intense uptake exceeding the iliac crest reference suggests . Key imaging features favoring benign enchondroma over low-grade include lesion size under 5 cm, central medullary location without deep endosteal scalloping exceeding two-thirds of cortical thickness, lack of periosteal reaction, and absence of soft-tissue mass or bone destruction; these criteria allow differentiation in over 90% of cases.

Histological Diagnosis

for histological confirmation of enchondroma is indicated in cases of atypical imaging features, such as lesion size exceeding 5 cm, cortical destruction or thinning greater than two-thirds of cortical thickness, or endosteal scalloping, particularly in long bones like the or ; it is also recommended for symptomatic lesions causing pain at rest or in syndromic contexts such as Ollier disease or Maffucci syndrome. On gross examination, enchondromas appear as well-circumscribed, gray-white to bluish-gray, glistening lobules of , typically measuring 1-5 cm in diameter, with possible cystic degeneration or myxoid areas within the . Microscopically, enchondromas consist of mature arranged in nodules, with chondrocytes embedded in lacunae showing low cellularity, uniform nuclei without significant atypia or binucleation, and an abundant often exhibiting ring-like calcifications; is positive for S-100 protein, confirming cartilaginous differentiation. Enchondromas are classified as (WHO) grade 1 benign tumors and are differentiated from low-grade primarily by the absence of permeative growth (i.e., no entrapment of lamellar trabeculae by ), lack of significant mitotic activity, minimal cellular pleomorphism, and typically IDH1 or IDH2 status, whereas IDH-wildtype lesions may raise suspicion for alternative diagnoses. Molecular testing reveals somatic in IDH1 (most commonly R132C) or IDH2 genes in 50-80% of enchondromas, which produce the oncometabolite D-2-hydroxyglutarate and support the ; absence of these in a cartilaginous may indicate a need to consider other entities, such as low-grade or non-neoplastic conditions.

Management and Treatment

Non-Surgical Management

Non-surgical management is the preferred approach for enchondromas, particularly those that are small (less than 2 cm in ), located in the hand, and without associated fractures, as these lesions are typically benign and stable. protocols generally involve serial radiographs to monitor for stability, with imaging performed every 6 to 12 months during the first 2 years following , followed by annual evaluations thereafter, unless clinical changes necessitate more frequent assessment. This schedule allows detection of any progression while minimizing unnecessary . For patients experiencing mild symptoms such as , conservative measures include the use of nonsteroidal anti-inflammatory drugs (NSAIDs) or analgesics to alleviate discomfort, alongside activity modification to reduce mechanical stress on the affected and prevent pathological fractures. In cases of hand involvement, protective splinting may be recommended post-fracture healing to support bone integrity during daily activities. Ongoing monitoring focuses on evaluating for signs of lesion progression, including growth, cortical thinning, or the onset of new , with heightened vigilance required in patients with associated syndromes such as Ollier disease or Maffucci syndrome due to increased risk of transformation. If such changes occur, further imaging like MRI may be employed to assess for atypical features, though routine advanced imaging is not indicated for stable cases. Patient education emphasizes the benign nature of most enchondromas, providing reassurance that is rare (less than 1% for solitary lesions), while stressing the importance of prevention through avoidance of high-impact activities and prompt reporting of any new symptoms. For hand lesions, instructions on using protective measures, such as padded gloves during sports, can help mitigate risks.

Surgical Interventions

Surgical interventions are indicated for enchondromas that cause persistent , pathologic fractures, growth on serial , or suspicion of , with lesions more likely to require due to higher risk of complications compared to those in the hand. The standard operative procedure is , which involves creating a to access the tumor cavity followed by aggressive scraping to remove the , often enhanced by pulsed lavage to eliminate microscopic residual tissue. Following , the resulting bone defect is typically filled with grafting material; autografts from the or allografts provide and promote healing, while synthetic options such as polymethylmethacrylate (PMMA) cement are preferred for hand lesions to offer immediate mechanical stability and allow early . Adjunctive techniques may be employed to extend margins and reduce recurrence risk in high-risk cases, including high-speed burring of the cavity walls, cryotherapy with multiple freeze-thaw cycles below -50°C, or application of phenol as a chemical adjuvant; if a pathologic fracture is present, internal fixation with plates or screws is incorporated to stabilize the . Surgical outcomes demonstrate high success rates of 90-95% for in treating benign tumors like enchondroma, with low recurrence (typically <5%) and minimal complications such as or infection (around 11%) when performed by experienced surgeons.

Prognosis and Complications

Prognosis

Solitary enchondromas generally follow a benign course with an excellent long-term prognosis, carrying a lifetime risk of malignant transformation to of less than 1%. Patients with these lesions typically experience no progression or symptoms over time, and the 5-year event-free approaches 100%. In contrast, syndromic forms such as Ollier disease and Maffucci syndrome confer a higher risk of skeletal malignancy, estimated at 25-30% for Ollier disease and up to 50% for Maffucci syndrome, with the latter also associated with non-skeletal cancers that can further diminish overall survival. Recurrence rates after surgical are low, ranging from 5-10%, and most cases manifest within the first 2 years postoperatively. For solitary lesions managed with , approximately 80% remain stable without requiring intervention, though complete spontaneous resolution is uncommon. Functional outcomes are favorable in the majority of cases, particularly for enchondromas in the hand, where full recovery of and strength is achieved in over 80% of patients following treatment. In syndromic presentations, limb deformities may necessitate additional orthopedic interventions to optimize function and prevent progression. Follow-up protocols emphasize regular to monitor for growth or transformation; solitary lesions warrant periodic radiographic every 3-6 months initially, then annually for at least 3-5 years, while multiple enchondromas in syndromes require lifelong annual evaluations.

Complications

Enchondromas are associated with several potential complications, primarily due to their location within and the mechanical stress they impose. The most common complication is , which occurs in 40% to 60% of patients at presentation, particularly in the small bones of the hands where the tumor's intramedullary growth weakens the cortex. These fractures typically heal with conservative management such as immobilization, though surgical intervention like may be required if the persists or causes ongoing instability. Malignant transformation represents a significant long-term risk, though it is rare in solitary enchondromas, with rates estimated at less than 1%, often involving to . In contrast, the risk is substantially higher in syndromic cases; for Ollier disease, occurs in approximately 25% to 30% of patients, primarily to . Maffucci syndrome carries an even greater risk, with up to 50% of cases progressing to skeletal malignancies such as , alongside visceral malignancies arising from associated vascular lesions. Surgical management of enchondromas can introduce additional complications, including (<5% of cases), graft failure following procedures, and low recurrence rates (0-5%). Iatrogenic fractures may also occur postoperatively, particularly in the hand, due to the fragility of affected bones. In patients with multiple enchondromas, especially growing children, angular deformities or limb length discrepancies can develop from disrupted bone growth and remodeling. Maffucci syndrome further complicates this with vascular malformations, such as hemangiomas, leading to issues like or hemorrhage. Other potential adverse events include following pathologic fractures, which may persist despite healing, and rare instances of soft-tissue extension that can mimic more aggressive lesions.

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