An osteoma is a benign, non-cancerous growth composed of bone tissue. These growths are slow-growing and can form on the surface of existing bones. While a single osteoma can occur, the diagnosis of “multiple osteomas” indicates the presence of more than one of these bony tumors. Their discovery, however, can be significant for a person’s broader health picture.
Symptoms and Diagnosis
The presence of multiple osteomas often goes unnoticed because they are frequently asymptomatic. Their discovery is commonly incidental, found during imaging studies like X-rays or CT scans performed for unrelated reasons, such as dental assessments or evaluation of a head injury.
When symptoms do arise, they depend entirely on the osteoma’s size and location. Growths on the skull or forehead may cause headaches or present as visible, hard lumps, leading to cosmetic concerns. If an osteoma develops within the facial bones, it can obstruct sinus drainage pathways, leading to congestion. Growths near the jaw can cause facial pain, while those in or near the ear canal might interfere with hearing.
Diagnosis relies on medical imaging. A CT scan is the most effective method to diagnose an osteoma, as it clearly shows the growth’s well-defined, bony nature. X-rays and MRIs can also be used to identify these tumors and assess their relationship to surrounding structures. Because their appearance on scans is distinct, a biopsy is often unnecessary to confirm the diagnosis.
The Connection to Gardner Syndrome
The medical importance of identifying multiple osteomas is their strong association with Gardner syndrome, a genetic condition. Gardner syndrome is a variant of a disorder called Familial Adenomatous Polyposis (FAP). The appearance of several osteomas, particularly on the jaw and skull, often serves as an external sign pointing toward this internal condition. The bone growths frequently appear before other symptoms of the syndrome manifest.
Gardner syndrome is caused by a mutation in the adenomatous polyposis coli (APC) gene, which is involved in suppressing tumor growth. This genetic disorder is characterized by the development of hundreds or even thousands of polyps in the colon and rectum. While the osteomas are harmless, these intestinal polyps have an almost 100% risk of progressing to colorectal cancer if the condition is not managed. Without treatment, cancer development is nearly certain, often by the age of 40.
Beyond the intestinal polyps and osteomas, Gardner syndrome can cause other signs. These include skin and soft tissue growths, such as epidermoid cysts and fibromas. Dental abnormalities are also common, including the presence of extra or unerupted teeth. The combination of multiple osteomas with any of these other features makes investigating for Gardner syndrome necessary.
Managing the Condition
The management for multiple osteomas is twofold, addressing the bone growths and the underlying syndrome. If osteomas are asymptomatic and not causing problems, they are monitored with periodic observation. Surgical removal is reserved for osteomas that cause pain, interfere with functions like hearing or sinus drainage, or create a cosmetic deformity.
The management focus is on Gardner syndrome due to the high risk of colorectal cancer. A diagnosis of multiple osteomas prompts a referral to a gastroenterologist for evaluation. This involves regular and early screening with procedures like colonoscopies to monitor for the development of intestinal polyps. These screenings may begin as early as a patient’s teenage years.
If polyps are found, they are removed to prevent their transformation into cancer. Prophylactic surgery to remove the colon is often recommended as the only definitive way to prevent cancer. Furthermore, genetic counseling and testing for the APC gene mutation are advised for the patient and their family members. This allows relatives to understand their own risk and begin surveillance to manage the condition effectively.