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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:
- 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. Always consult your physician for a diagnosis.
The tibia is the most commonly involved bone, accounting for 85% of cases. It is usually painless, although there may be localized pain or fracture, and presents as a localized firm swelling of the tibia in children less than two decades old (median age for males 10, females 13). Several authors have related this non-neoplastic lesion to adamantinoma - a tumor involving subcutaneous long bones - stating the common cause to be fibrovascular defect. However, the latter is distinguished from an osteofibrous dysplasia by the presence of soft tissue extension, intramedullary extension, periosteal reaction and presence of hyperchromic epithelial cells under the microscope.
Osteofibrous dysplasia may also be mistaken for fibrous dysplasia of bone, although osteofibrous dysplasia is more likely to show an immunohistochemical reaction to osteonectin, neurofibromin, and S-100 protein.
Hematologic manifestations related to bone marrow suppression and subsequent pancytopenia are a major source of morbidity and mortality. Additionally extramedullary hematopoiesis can result in liver and spleen dysfunction. Cranial nerve dysfunction and neurologic complications are usually associated with infantile osteopetrosis. Expansion of the skull bone leads to macrocephaly. Additionally, linear growth retardation that is not apparent at birth, delayed motor milestones and poor dentition can occur.
Fibrocartilaginous mesenchymoma of bone is (FCMB) is an extremely rare tumor first described in 1984. Fewer than 20 cases have been reported, with patient ages spanning from 9 to 25 years, though a case in a male infant aged 1 year and 7 months has been reported. Quick growth and bulky size are remarkable features of this tumor.
Malignant infantile osteopetrosis, also known as infantile autosomal recessive osteopetrosis or simply infantile osteopetrosis is a rare osteosclerosing type of skeletal dysplasia that typically presents in infancy and is characterized by a unique radiographic appearance of generalized hyperostosis - excessive growth of bone.
The generalized increase in bone density has a special predilection to involve the medullary portion with relative sparing of the cortices. Obliteration of bone marrow spaces and subsequent depression of the cellular function can result in serious hematologic complications. Optic atrophy and cranial nerve damage secondary to bony expansion can result in marked morbidity. The prognosis is extremely poor in untreated cases. Plain radiography provides the key information to the diagnosis. Clinical and radiologic correlations are also fundamental to the diagnostic process, with additional gene testing being confirmatory.
The most common locations are the shaft and epyphises of long bones (fibula and humerus) but the spine, metatarsal bones, and ilium have been involved as well. Radiologic examination evidences osteolytic areas with a lobulated framework comprising radiolucent and radiodense foci admixed to speckled calcification. Cortical destruction is a common finding with no soft tissue expansion in many cases. Histopathology of the lesion shows large areas of mature fibrous stroma undergoing hyaline cartilage metaplasia resulting in conspicuous lobules or gradual transformation into chondroid foci. Both hyaline cartilage and chondroid in turn undergo calcification and endochondral cancellous bone formation mimicking epiphyseal plate-like cartilage.
Differential diagnosis is concerned with fibrocartilaginous dysplasia of bone, desmoplastic fibroma, low-grade fibrosarcoma, chondromyxoid fibroma and low-grade chondrosarcoma.
A full account of imaging findings on radiography, bone scan, CT and magnetic resonance has been provided by Sumner et al.
An enchondroma is a cartilage cyst found in the bone marrow. Typically, enchondroma is discovered on an X-ray scan. Enchondromas have a characteristic appearance on Magnetic Resonance Imaging (MRI) as well. They have also been reported to cause increased uptake on PET examination.
Osteofibrous dysplasia (also known as ossifying fibroma) is a rare, benign non-neoplastic condition with no known cause. It is considered a fibrovascular defect. Campanacci described this condition in two leg bones, the tibia and fibula, and coined the term. This condition should be differentiated from Nonossifying fibroma and fibrous dysplasia of bone.
Typically patients present with progressive pain, often long standing and/or bony swelling and restricted range of movement in affected limb 3,12. The latter is most often the case in bones with little overlying soft tissues (e.g. short tubular bones of the hands and feet).
Most chondromyxoid fibromas are located in the metaphyseal region of long bones (60%), and may extend to the epiphyseal line and even rarely abut the articular surface 3,12. They are almost never just epiphyseal 3. The classical site is the upper 1/3rd of tibia ( which accounts for 25% of all cases) with the small tubular bones of the foot, the distal femur and pelvis being other relatively common locations 12.
Rarely occur in the skull or skull base.
"Fibrous dysplasia" causes bone thinning and growths or lesions in one or more bones of the human body.
These lesions are tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone(s) can be involved.
"Cleidocranial dysostosis" is a general skeletal condition named for the collarbone (cleido-) and cranium deformities which people with it often have. Common features include:
- Partly or completely missing collarbones.
- A soft spot or larger soft area in the top of the head where the fontanelle failed to close.
- Bones and joints are underdeveloped.
- The permanent teeth include supernumerary teeth.
- Permanent teeth not erupting
- Bossing (bulging) of the forehead.
- Hypertelorism
A nonossifying fibroma (also called fibroxanthoma) is a common benign bone tumor in children and adolescents. However, it is controversial whether it represents a true neoplasm or rather a developmental disorder of growing bone. Radiographically, the tumor presents as a well marginated radiolucent lesion, with a distinct multilocular appearance. These foci consist of collagen rich connective tissue, fibroblasts, histiocytes and osteoclasts. They originate from the growth plate, and are located in adjacent parts of the metaphysis and diaphysis of long bones, most often of the legs. No treatment is needed in asymptomatic patients and spontaneous remission with replacement by bone tissue is to be expected.
Multiple nonossifying fibromas occur in Jaffe-Campanacci syndrome in combination with cafe-au-lait spots, mental retardation, hypogonadism, ocular and cardiovascular abnormalities.
The most common symptom is mild to severe pain that is gradually progressive in the affected region and may be initially attributed to a minor injury or sports-related injury. Pain may be present for several weeks, months, or years. Other symptoms in order of most common to least commonly observed include swelling, a limp (when affected bone is in the lower extremity), joint stiffness, and a soft tissue mass.
Physical findings include localized tenderness and a decreased range of motion in the involved bone and nearby joint, muscle atrophy, a palpable mass, soft tissue swelling, and joint effusion in the affected area. Less commonly, pathological fractures can be found, especially in cases involving the foot. In cases involving the temporal bone, tinnitus, dizziness, and hearing loss have been reported.
In a publication by Turcotte et al. it was found that the average duration of symptoms for patients with chondroblastoma was about 20 months, ranging from 5 weeks to 16 years.
Limited normal functions and movements are caused by osteochondromas growing slowly and inwardly. The majority of osteochondromas are symptomless and are found incidentally. Each individual with osteochondroma may experience symptoms differently and most of the time individuals will experience no symptoms at all. Some of the most common symptoms are a hard immobile painless palpable mass, adjacent muscle soreness, and pressure or irritation with heavy exercising.
Major symptoms arise when complications such as fractures, bone deformity or mechanical joint problems occur. If the occurrence of an osteochondroma is near a nerve or a blood vessel, the affected limb can experience numbness, weakness, loss of pulse or color change. Periodic changes in the blood flow can also take place. Approximately 20% of patients experiencing nerve compression commonly acknowledge vascular compression, arterial thrombosis, aneurysm, and pseudoaneurysm. Formation of pseudoaneurysm and venous thrombosis lead to claudication, pain, acute ischemia, and symptoms of phlebitis. If the tumor is found under a tendon, it can cause pain during movement causing restriction of joint motion. Pain can also occur due to bursal inflammation, swelling or fracture at the base of the tumor stalk. Some of the clinical signs and symptoms of malignant osteochondroma are pain, swelling, and mass enlargement.
The majority of cases occur in the second and third decades, with approximately 75% of cases occurring before the age of 30 years 1,12-15. There is no recognised gender predilection. Examples have however been seen in patients up to the age of 75 years. In some series there is a male predilection 12 whilst in others no such distribution is found 2
Characterized by being less than 1.5 cm in diameter, osteoid osteomas most frequently occur in young men (Male:Female ratio 3:1) and may occur in any bone of the body, most frequently around the knee but often also seen in the vertebrae, in the long bones and less commonly in the mandible or other craniofacial bones.
Severe pain typically occurs at night, but can also be constant at any time of day. The chief complaint may only be of dull pain which is non radiating and persistent throughout 24 hours but increases significantly at night. Pain tends to be relieved with NSAIDs such as ibuprofen.
Osteochondromas or osteocartilaginous exostoses are the most common benign tumors of the bones.
The tumors take the form of cartilage-capped bony projections or outgrowth on the surface of bones (exostoses). It is characterized as a type of overgrowth that can occur in any bone where cartilage forms bone. Tumors most commonly affect long bones in the leg, pelvis, or scapula (shoulder blade). Development of osteochondromas take place during skeletal growth between the ages of 13 and 15 and ceases when the growth plate fuses at puberty. They arise within the first three decades of life affecting children and adolescents.
Osteochondromas occur in 3% of the general population and represent 35% of all benign tumors and 8% of all bone tumors. Majority of these tumors are solitary non-hereditary lesions and approximately 15% of osteochondromas occur as hereditary multiple osteochondromas (HMOs). They can occur as a solitary lesion (solitary osteochondroma) or multiple lesions within the context of the same bone (Multiple Osteochondroma). Osteochondromas do not result from injury and the exact cause remains unknown. Recent research has indicated that multiple osteochondromas is an autosomal dominant inherited disease. Germ line Mutations in "EXT1" and "EXT2" genes located on chromosomes 8 and 11 have been associated with the cause of the disease.
The treatment choice for osteochondroma is surgical removal of solitary lesion or partial excision of the outgrowth, when symptoms cause motion limitations or nerve and blood vessel impingements.
Chondroblastoma is a rare, benign, locally aggressive bone tumor that typically affects the epiphyses or apophyses of long bones. It is thought to arise from an outgrowth of immature cartilage cells (chondroblasts) from secondary ossification centers, originating from the epiphyseal plate or some remnant of it.
Chondroblastoma is very uncommon, accounting for only 1-2% of all bone tumors. It affects mostly children and young adults with most patients being in the second decade of life, or less than 20 years of age. Chondroblastoma shows a predilection towards the male sex, with a ratio of male to female patients of 2:1. The most commonly affected site is the femur, followed by the humerus and tibia. Less commonly affected sites include the talus and calcaneus of the foot and flat bones.
Patients with osteoblastoma usually present with pain of several months' duration. In contrast to the pain associated with osteoid osteoma, the pain of osteoblastoma usually is less intense, usually not worse at night, and not relieved readily with salicylates (aspirin and related compounds). If the lesion is superficial, the patient may have localized swelling and tenderness. Spinal lesions can cause painful scoliosis, although this is less common with osteoblastoma than with osteoid osteoma. In addition, lesions may mechanically interfere with the spinal cord or nerve roots, producing neurologic deficits. Pain and general weakness are common complaints.
An osteoid osteoma is a benign bone tumor that arises from osteoblasts and was originally thought to be a smaller version of an osteoblastoma. Osteoid osteomas tend to be less than 1.5 cm in size. The tumor can be in any bone in the body but are most common in long bones, such as the femur and tibia. They account for 10 to 12 percent of all benign bone tumors. "Osteoid osteomas may occur at any age, and are most common in patients between the ages of 4 and 25 years old. Males are affected approximately three times more commonly than females."
An affected infant typically has the following triad of signs and symptoms: soft-tissue swelling, bone lesions, and irritability. The swelling occurs suddenly, is deep, firm, and may be tender. Lesions are often asymmetric and may affect several parts of the body. Affected bones have included the mandible, tibia, ulna, clavicle, scapula, ribs, humerus, femur, fibula, skull, ilium, and metatarsals. When the mandible (lower jaw bone) is affected, infants may refuse to eat, leading to failure to thrive.
Prenatal and neonatal diagnosis of boomerang dysplasia includes several prominent features found in other osteochondrodysplasias, though the "boomerang" malformation seen in the long bones is the delineating factor.
Featured symptoms of boomerang dysplasia include: dwarfism (a lethal type of infantile dwarfism caused by systemic bone deformities), underossification (lack of bone formation) in the limbs, spine and ilium (pelvis); proliferation of multinucleated giant-cell chondrocytes (cells that produce cartilage and play a role in skeletal development - chondrocytes of this type are rarely found in osteochondrodysplasias), brachydactyly (shortened fingers) and (undersized, shortened bones).
The characteristic "boomerang" malformation presents intermittently among random absences of long bones throughout the skeleton, in affected individuals. For example, one individual may have an absent radius and fibula, with the "boomerang" formation found in both ulnas and tibias. Another patient may present "boomerang" femora, and an absent tibia.
Patients typically present with swelling with or without pain. The slow-growing tumor predominantly arises in long bones in a subcortical location (95% in the tibia or fibula). Most commonly, patients are in their second or third decade, but adamantinoma can occur over a wide age range.
Benign osteofibrous dysplasia may be a precursor of adamantinoma or a regressive phase of adamantinoma.
Histologically, islands of epithelial cells are found in a fibrous stroma. The tumor is typically well-demarcated, osteolytic and eccentric, with cystic zones resembling soap bubbles.
Despite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than normal. Mild osteopetrosis may cause no symptoms, and present no problems.
However, serious forms can result in...
- Stunted growth, deformity, and increased likelihood of fractures
- Patients suffer anemia, recurrent infections, and hepatosplenomegaly due to bone expansion leading to bone marrow narrowing and extramedullary hematopoiesis
- It can also result in blindness, facial paralysis, and deafness, due to the increased pressure put on the nerves by the extra bone
- Abnormal cortical bone morphology
- Abnormal form of the vertebral bodies
- Abnormality of temperature regulation
- Abnormality of the ribs
- Abnormality of vertebral epiphysis morphology
- Bone pain
- Cranial nerve paralysis
- Craniosynostosis
- Hearing impairment
- Hypocalcemia
Dogs with limb osteosarcoma typically show lameness and swelling at the affected site. For other sites, dogs may show difficulty to open their mouth (if jaw bone cancer), nasal discharge (if nasal cavity bone cancer) or neurological signs (if spine bone cancer).