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:

- 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.

- 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) - 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.

Osteochondromas are often asymptomatic and may not cause any kind of discomfort. They are often found accidentally when an X-ray is done for an unrelated reason.

- X-rays are the first tests performed that characterize a lesion. They show a clear picture of dense structures of bones, and will also indicate bone growth pertaining to osteochondroma.

- Computed Tomography (CT) scan can identify the bony lesion in great details and show the presence of calcification. These tests also provide great details, especially in soft tissues with the aide of cross-sectional images.

- Magnetic Resonance Imaging (MRI) is the most accurate method for detecting bone masses in symptomatic cases to depict precise morphology of a tumor. It is used to verify if the palpable mass is continuous with the cortex of the affected bone and to differentiate an osteochondroma from other lesions on the surface of the bone. MRI can also be used to look for cartilage on the surface of tumor and can depict any vascular complications caused by the tumor. An MRI can identify tumors of the spinal column and is often used to diagnose low grade osteosarcoma.

- Ultrasound is done if aneurysms or pseudoaneurysms and venous or arterial thrombosis is suspected. Ultrasound is an accurate method for examining the cartilaginous cap of the osteochondroma. It is also a way of pinpointing bursitis. However, it cannot be used to predict if the growth of tumor is inward in regards to the cap.

- Angiography is used to detect vascular lesions caused by osteochondroma due to ossified cartilaginous cap. It is also used to characterize malignant transformation lesions through neovascularity.

- Clinical testing such as sequence analysis can be done of the entire coding regions of both "EXT1" and "EXT2" to detect mutations.

- A biopsy of the tissue sample of the tumor can also be taken to check for cancer.

Tests for osteochondroma can also identify diseases such as secondary peripheral chondrosarcoma and Multiple osteochondromatosis. In large, secondary chondrosarcoma arises at the site of osteochondroma due to increased thickness of the cartilage cap indicating potential malignant transformation. The symptoms of multiple osteochondromatosis are similar to solitary osteochondroma, but they are often more severe. Painless bumps can arise at the site of tumor and pain and other discomforts can also take place if pressure is put on the soft tissues, nerves, or blood vessels. Dysplasia Epiphysealis Hemimelica (DEH) or Trevor's disease and metachondromatosis (MC) are considered differential diagnosis of both solitary and hereditary osteochondromas. DEH is described as a type of over growth at one or more epiphyses. Similar to osteochondroma, DEH is diagnosed prior to 15 years of age and the growth of lesions end at puberty, when the growth plates close. Metachondromatosis is a rare disorder that exhibit symptoms of both multiple osteochondromas and enchondromas in children and is also inherited in autosomal dominant mode.

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.

Osteomyelitis (bone infection), which is much more common than infantile cortical hyperostosis, must be excluded, since it requires urgent treatment. Other diagnoses that can mimic this disorder and need to be excluded include physical trauma, child abuse, Vitamin A excess, hyperphosphatemia, prostaglandin E1 and E2 administration, scurvy, infections (including syphilis), Ewing sarcoma, and metastatic neuroblastoma.

Chondromyxoid fibromas can share characteristics with chondroblastomas with regards to histologic and radiographic findings. However they more commonly originate from the metaphysis, lack calcification and have a different histologic organization pattern. Other differential diagnoses for chondroblastoma consist of giant cell tumors, bone cysts, eosinophilic granulomas, clear cell chondrosarcomas, and enchondromas (this list is not exhaustive).

Osteofibrous dysplasia is treated with marginal resection with or without bone grafting, depending on the size of the lesion and the extent of bony involvement. However, due to the high rate of recurrence in skeletally immature individuals, this procedure is usually postponed until skeletal maturity.

Most infants with infantile cortical hyperostosis are diagnosed by physical examination. X-rays can confirm the presence of bone changes and soft tissue swelling. Biopsy of the affected areas can confirm the presence of typical histopathological changes. No specific blood tests exist, but tests such as erythrocyte sedimentation rate (ESR) and alkaline phosphatase levels are often elevated. A complete blood count may show anemia (low red blood cell count) and leukocytosis (high white blood cell count). Other tests may be done to help exclude other diagnoses. Ultrasound imaging can help diagnose prenatal cases.

Plain film

often seen as a lobulated, eccentric radiolucent lesion

long axis parallel to long axis of long bone

no periosteal reaction (unless a complicating fracture present)

geographic bone destruction: almost 100%

well defined sclerotic margin: 86%

there can be presence of septations (pseudotrabeculation): 57% 2

there can be presence of matrix calcification in a small proportion of cases: 12.5%1

MRI

MR features are often not particularly specific. Signal characteristics include

T1 - low signal

T1 C+ (Gd) -

the majority (~70%) tend to show peripheral nodular enhancement

~ 30% diffuse contrast enhancement and this can be either homogeneous or heterogeneous 19

T2 - high signal

Bone scan

A scintigraphic "doughnut sign" has been described in this tumour type 11. However, this is very non-specific and can be found in a plethora of other bone lesions.

Chondroid differentiation is a common feature of chondroblastoma. A typical histological appearance consists of a combination of oval mononuclear and multi-nucleated osteoclast-type giant cells. However this is not a prerequisite for diagnosis, as cells with epithelioid characteristics have been observed in lesions of the skull and facial bones. A "chicken-wire" appearance is characteristic of chondroblastoma cells and is the result of dystrophic calcification that may surround individual cells. Although, calcification may not be present and is not a prerequisite for diagnosis. Mitotic figures can be observed in chondroblastoma tissue but are not considered atypical in nature, and therefore, should not be viewed as a sign of a more serious pathology. There is no correlation between mitotic activity and location of the lesion. Furthermore, the presence of atypical cells is rare and is not associated with malignant chondroblastoma. There are no discernible histological differences observed when comparing the aggressive form of chondroblastoma that can cause recurrence or metastases with its less aggressive, benign, counterpart.

They are benign lesions and malignant degeneration is rare. They are usually treated with curettage which however have a high recurrence rate of 25%. As such if an en-bloc resection is possible this is advisable

Osteochondromas are benign lesions and do not affect life expectancy. Complete excision of osteochondroma is curative and the reoccurrences take place when the removal of tumor is incomplete. Multiple reoccurrences in a well-excised lesion indicate that it may be malignant. The risk of malignant transformation takes place in 1–5% of individuals. If any symptoms of cancerous tumor takes place, then the patient should be evaluated by a bone specialist. No treatment is necessary for Solitary osteochondromas that are asymptomatic. Treatments for solitary osteochondroma are careful observation over time and taking regular x-rays to monitor any changes in the tumor. If the lesion is causing pain with activity, nerve or vessel impingement, or if the bone growth has fully matured and the presence of a large cartilage cap is prominent, then it is advised that the tumor be surgically removed.

Osteochondromas have a low rate of malignancy (<1%) and resection of the tumor is suggested if symptoms such as pain, limitation of movement, or impingement on nerves or vessels occur. Resection of the tumor also takes place when the tumor increases in size and progresses towards malignancy. During surgical resection, the entire lesion along with the cartilaginous cap should be removed to minimize any chances of reoccurrences. Surgical treatment becomes the sole treatment of choice if common complications such as fractures, symptoms of peripheral nerves such as paresthesia, paraplegia, peroneal neuropathy, and upper limb neuropathy take place. A prophylactic resection is suggested if the lesion lies next to a vessel.

Depending on the size and location of the tumor, the time it takes to return to normal daily activities varies between individuals. Limitation on some activities is advised if pain or discomfort persists after surgical excision.

When diagnosing osteoblastoma, the preliminary radiologic workup should consist of radiography of the site of the patient's pain. However, computed tomography (CT) is often necessary to support clinical and plain radiographic findings suggestive of osteoblastoma and to better define the margins of the lesion for potential surgery. CT scans are best used for the further characterization of the lesion with regard to the presence of a nidus and matrix mineralization. MRI aids in detection of nonspecific reactive marrow and soft tissue edema, and MRI best defines soft tissue extension, although this finding is not typical of osteoblastoma. Bone scintigraphy (bone scan) demonstrates abnormal radiotracer accumulation at the affected site, substantiating clinical suspicion, but this finding is not specific for osteoblastoma. In many patients, biopsy is necessary for confirmation.

The only effective line of treatment for malignant infantile osteopetrosis is hematopoietic stem cell transplantation. It has been shown to provide long-term disease-free periods for a significant percentage of those treated; can impact both hematologic and skeletal abnormalities; and has been used successfully to reverse the associated skeletal abnormalities.

Radiographs of at least one case with malignant infantile osteopetrosis have demonstrated bone remodeling and recanalization of medullar canals following hematopoietic stem cell transplantation. This favorable radiographic response could be expected within one year following the procedure - nevertheless, primary graft failure can prove fatal.

Radiographs in osteoid osteoma typically show a round lucency, containing a dense sclerotic central "nidus" (the characteristic lesion in this kind of tumor), surrounded by sclerotic bone. The nidus is seldom larger than 1.5 cm.

The lesion can in most cases be detected on CT scan, bone scans and angiograms. Plain radiographs are not always diagnostic. MRI adds little to the CT findings which are useful for localisation. Radionuclide scanning shows intense uptake which is useful for localisation at surgery using a hand held detector, and for confirmation that the entire lesion has been removed.

An OI diagnosis can be confirmed through DNA or collagen testing, but in many cases the occurrence of bone fractures with little trauma and the presence of other clinical features such as blue sclera are sufficient for a diagnosis. A skin biopsy can be performed to determine the structure and quantity of type I collagen. DNA testing can confirm the diagnosis, however, it cannot exclude it because not all mutations causing OI are known and/or tested for. OI type II is often diagnosed by ultrasound during pregnancy, where already multiple fractures and other characteristic features may be present. Relative to control, OI cortical bone shows increased porosity, canal diameter, and connectivity in micro-computed tomography.

An important differential diagnosis of OI is child abuse, as both may present with multiple fractures in various stages of healing. Differentiating them can be difficult, especially when no other characteristic features of OI are present. Other differential diagnoses include rickets, osteomalacia, and other rare skeletal syndromes.

The differential diagnosis of malignant infantile osteopetrosis includes other genetic skeletal dysplasias that cause osteosclerosis. They are collectively known as osteosclerosing dysplasias. The differential diagnosis of genetic osteosclerosing dysplasias including infantile osteopetrosis has been tabulated and illustrated in literature citations.

- Neuropathic infantile osteopetrosis

- Infantile osteopetrosis with renal tubular acidosis

- Infantile osteopetrosis with immunodeficiency

- IO with leukocyte adhesion deficiency syndrome (LAD-III)

- Intermediate osteopetrosis

- Autosomal dominant osteopetrosis (Albers-Schonberg)

- Pyknodysostosis (osteopetrosis acro-osteolytica)

- Osteopoikilosis (Buschke–Ollendorff syndrome)

- Osteopathia striata with cranial sclerosis

- Mixed sclerosing bone dysplasia

- Progressive diaphyseal dysplasia (Camurati–Engelmann disease)

- SOST-related sclerosing bone dysplasias

Since elevated PGE2 levels are correlated with PDP, urinary PGE2 can be a useful biomarker for this disease. Additionally, HPGD mutation analyses are relatively cheap and simple and may prove to be useful in early investigation in patients with unexplained clubbing or children presenting PDP-like features. Early positive results can prevent expensive and longtime tests at identifying the pathology.

For the follow-up of PDP disease activity, bone formation markers such as TAP, BAP, BGP, carbodyterminal propeptide of type I procallagen or NTX can play an important role. Other biomarkers that can be considered are IL-6 and receptor activator of NF-κB ligand (RANKL), which are associated with increased bone resorption in some patients. However, further investigation is needed to confirm this use of disease monitoring.

Prostaglandin E2 may also be raised in patients with lung cancer and finger clubbing. This may be related to raised levels of cyclooxygenase-2, an enzyme involved in the metabolism of prostaglandins. A similar association has been noted in cystic fibrosis.

Surgery is curative despite possible local relapses. Wide resection of the tumor and resection arthrodesis with an intramedullary nail, vertebrectomy and femoral head allograft replacement of the vertebral body, resection of the iliac wing and hip joint disarticulation have been among the performed procedures.

The close resemblance of FCMB to fibrocartilaginous dysplasia has suggested to some scholars that they might be closely related entities, although the latter features woven bone trabeculae without osteoblastic rimming, which is a quite distinctive aspect. Instead the occurrence of epiphyseal plate-like cartilage is peculiar of the former.

The easiest way to diagnose PDP is when pachydermia, finger clubbing and periostosis of the long bones are present. New bone formation under the periosteum can be detected by radiographs of long bones. In order diagnose PDP, often other diseases must be excluded. For example, to exclude secondary hypertrophic osteoarthropathy, any signs of cardiovascular, pulmonary, hepatic, intestinal and mediastinal diseases must be absent. MRI and ultrasound also have characterictic findings.

Skin biopsy is another way to diagnose PDP. However, it is not a very specific method, because other diseases share the same skin alterations with PDP, such as myxedema and hypothyroidism. In order to exclude these other diseases, hormonal studies are done. For example, thyrotropin and growth hormone levels should be examined to exclude thyroid acropachy and acrome. However, skin biopsy helps to diagnose PDP in patients without skin manifestations.

When clubbing is observed, it is helpful to check whether acroosteolysis of distal phalanges of fingers is present. This is useful to diagnose PDP, because the combination of clubbing and acroosteolysis is only found in PDP and Cheney’s syndrome.

The first route of treatment in Osteoblastoma is via medical means. Although necessary, radiation therapy (or chemotherapy) is controversial in the treatment of osteoblastoma. Cases of postirradiation sarcoma have been reported after use of these modalities. However, it is possible that the original histologic diagnosis was incorrect and the initial lesion was an osteosarcoma, since histologic differentiation of these two entities can be very difficult.

The alternative means of treatment consists of surgical therapy. The treatment goal is complete surgical excision of the lesion. The type of excision depends on the location of the tumor.

- For stage 1 and 2 lesions, the recommended treatment is extensive intralesional excision, using a high-speed burr. Extensive intralesional resections ideally consist of removal of gross and microscopic tumor and a margin of normal tissue.

- For stage 3 lesions, wide resection is recommended because of the need to remove all tumor-bearing tissue. Wide excision is defined here as the excision of tumor and a circumferential cuff of normal tissue around the entity. This type of complete excision is usually curative for osteoblastoma.

In most patients, radiographic findings are not diagnostic of osteoblastoma; therefore, further imaging is warranted. CT examination performed with the intravenous administration of contrast agent poses a risk of an allergic reaction to contrast material.

The lengthy duration of an MRI examination and a history of claustrophobia in some patients are limiting the use of MRI. Although osteoblastoma demonstrates increased radiotracer accumulation, its appearance is nonspecific, and differentiating these lesions from those due to other causes involving increased radiotracer accumulation in the bone is difficult. Therefore, bone scans are useful only in conjunction with other radiologic studies and are not best used alone.

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.

OFC may be diagnosed using a variety of techniques. Muscles in patients afflicted with OFC can either appear unaffected or "bulked up." If muscular symptoms appear upon the onset of hyperparathyroidism, they are generally sluggish contraction and relaxation of the muscles. Deviation of the trachea (a condition in which the trachea shifts from its position at the midline of the neck), in conjunction with other known symptoms of OFC can point to a diagnosis of parathyroid carcinoma.

Blood tests on patients with OFC generally show high levels of calcium (normal levels are considered to range between 8.5 and 10.2 mg/dL, parathyroid hormone (levels generally above 250 pg/mL, as opposed to the "normal" upper-range value of 65 pg/mL), and alkaline phosphatase(normal range is 20 to 140 IU/L).

X-rays may also be used to diagnose the disease. Usually, these X-rays will show extremely thin bones, which are often bowed or fractured. However, such symptoms are also associated with other bone diseases, such as osteopenia or osteoporosis. Generally, the first bones to show symptoms via X-ray are the fingers. Furthermore, brown tumors, especially when manifested on facial bones, can be misdiagnosed as cancerous. Radiographs distinctly show bone resorption and X-rays of the skull may depict an image often described as "ground glass" or "salt and pepper". Dental X-rays may also be abnormal.

Cysts may be lined by osteoclasts and sometimes blood pigments, which lend to the notion of "brown tumors." Such cysts can be identified with nuclear imaging combined with specific tracers, such as sestamibi. Identification of muscular degeneration or lack of reflex can occur through clinical testing of deep tendon reflexes, or via photomotogram (an achilles tendon reflex test).

Fine needle aspiration (FNA) can be used to biopsy bone lesions, once found on an X-ray or other scan. Such tests can be vital in diagnosis and can also prevent unnecessary treatment and invasive surgery. Conversely, FNA biopsy of tumors of the parathyroid gland is not recommended for diagnosing parathyroid carcinoma and may in fact be harmful, as the needle can puncture the tumor, leading to dissemination and the possible spread of cancerous cells.

The brown tumors commonly associated with OFC display many of the same characteristics of osteoclasts. These cells are characteristically benign, feature a dense, granular cytoplasm, and a nucleus that tends to be ovular in shape, enclosing comparatively fine chromatin. Nucleoli also tend to be smaller than average.

The initial evaluation involves radiographs (X-rays) of the affected site, but the only way to confirm the diagnosis is by sampling the tissue via biopsy or needle aspiration.

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The first clinical manifestation of Paget's disease is usually an elevated alkaline phosphatase in the blood.

Paget's disease may be diagnosed using one or more of the following tests:

- Pagetic bone has a characteristic appearance on X-rays. A skeletal survey is therefore indicated.

- An elevated level of alkaline phosphatase in the blood in combination with normal calcium, phosphate, and aminotransferase levels in an elderly patient are suggestive of Paget's disease.

- Markers of bone turnover in urine "eg". Pyridinoline

- Elevated levels of serum and urinary hydroxyproline are also found.

- Bone scans are useful in determining the extent and activity of the condition. If a bone scan suggests Paget's disease, the affected bone(s) should be X-rayed to confirm the diagnosis.