Multiple Hereditary Exostoses: Signs, Causes, And How To Treat

Multiple hereditary exostoses, also known as MHE, is a rare genetic condition that affects bone growth. It is caused by mutations in specific genes that control the growth of bones. These mutations lead to the development of benign bone tumors called osteochondromas. MHE can run in families and is usually inherited from a parent who carries the mutated gene. Understanding the genetic basis of MHE can help healthcare providers provide appropriate care and support for individuals living with this condition.

What Are the Symptoms of Multiple Hereditary Exostoses?

Some patients also experience nerve compression symptoms like tingling or numbness. Children may have unequal limb lengths or limb deformities. In severe cases, the condition can lead to skeletal abnormalities. Regular monitoring and management by a healthcare professional are essential for early detection and treatment.

Bumps or lumps on bones that can be felt under the skin, often causing pain and discomfort when touched or with movement.
Restricted range of motion in affected joints, leading to stiffness and difficulty performing daily activities.
Uneven limb lengths or deformities in arms or legs, which can affect posture and cause issues with walking or running.
Numbness or tingling sensation in the fingers or toes due to pressure on nerves caused by the bone growths.
Frequent fractures or breaks in bones affected by multiple hereditary exostoses, even with minor trauma or stress on the bones.

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Causes of Multiple Hereditary Exostoses

These genetic mutations cause the formation of benign bone tumors called osteochondromas. The condition is inherited in an autosomal dominant pattern, meaning a child has a 50% chance of inheriting the mutated gene from a parent with multiple hereditary exostoses.

Multiple hereditary exostoses can be caused by mutations in genes such as EXT1 and EXT2, which are responsible for encoding proteins involved in bone growth.
Inheritance of the condition from one or both parents who carry the mutated genes can lead to the development of multiple hereditary exostoses in offspring.
Sporadic mutations in the EXT1 and EXT2 genes can also occur, causing the condition to manifest in individuals without a family history of multiple hereditary exostoses.
Environmental factors or other genetic mutations may contribute to the development of multiple hereditary exostoses in some cases, although the exact mechanisms are not fully understood.
Certain syndromes, such as hereditary multiple exostoses syndrome, can predispose individuals to develop multiple hereditary exostoses due to the underlying genetic mutations associated with these syndromes.

Types Of Multiple Hereditary Exostoses

Multiple hereditary exostoses can present in different ways, including different types based on the location and severity of the bony growths. These types include sessile, pedunculated, and flat exostoses. Sessile exostoses are broad-based while pedunculated ones have a stalk-like structure. Flat exostoses are characterized by their wide and thin appearance. These variations can impact symptoms and treatment options for individuals with this condition.

Osteochondroma: This type of multiple hereditary exostoses is characterized by benign bone tumors that develop near the growth plates of long bones, such as the arms, legs, and ribs.
Hereditary multiple exostoses: Also known as diaphyseal aclasis, this condition causes the formation of multiple bony growths called exostoses along the bones, leading to pain, deformities, and potential complications like nerve compression.
Dysplasia epiphysealis hemimelica: This rare form of multiple hereditary exostoses primarily affects the joints, particularly the ankle and knee, leading to abnormal growth of cartilage within the joint.
Trevor's disease: Trevor's disease is a rare form of multiple hereditary exostoses that is characterized by the development of exostoses primarily in the distal femur and proximal tibia.

Risk Factors

Patients with a family history of the condition are at higher risk. Mutations in the EXT1 and EXT2 genes have been linked to the disorder. Additionally, individuals with a parent affected by multiple hereditary exostoses have a 50% chance of inheriting the condition. Early diagnosis and management are crucial for better outcomes.

Having a family history of multiple hereditary exostoses increases the risk of developing the condition.
Mutations in the EXT1 or EXT2 genes can predispose individuals to multiple hereditary exostoses.
Male individuals are more likely to be affected by multiple hereditary exostoses than females.
Certain genetic syndromes, such as hereditary multiple exostoses syndrome, are associated with an increased risk of developing multiple hereditary exostoses.
Advanced paternal age at the time of conception has been identified as a potential risk factor for multiple hereditary exostoses.

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Diagnosis of Multiple Hereditary Exostoses

The doctor will look for bony growths on the body and assess any associated symptoms. Genetic testing may be recommended to confirm the diagnosis. Early detection is key for managing this condition effectively and preventing complications.

Physical Examination: Doctors may conduct a physical examination to identify the presence of bony lumps and assess any related symptoms in patients with multiple hereditary exostoses.
X-rays: X-rays are commonly used to visualize the extent and location of bone growths characteristic of multiple hereditary exostoses.
Genetic Testing: Genetic testing can confirm the diagnosis of multiple hereditary exostoses by identifying mutations in the EXT1 or EXT2 genes, which are associated with the condition.
MRI Scan: An MRI scan may be recommended to provide detailed images of the affected bones and soft tissues, helping in the evaluation of complications such as nerve compression.
CT Scan: CT scans can offer additional information on the size, shape, and location of exostoses, providing a more comprehensive view of the bony growths and their impact on surrounding structures.

Treatment for Multiple Hereditary Exostoses

Treatment for multiple hereditary exostoses focuses on managing symptoms and preventing complications. Options include regular monitoring, physical therapy, pain management, and surgery to remove or correct troublesome growths. Your healthcare provider will create a personalized treatment plan to address your specific needs and improve your quality of life. It's essential to follow your doctor's recommendations and attend regular check-ups for optimal management of the condition.

Surgical intervention is often recommended to remove exostoses causing pain or limiting mobility in patients with multiple hereditary exostoses.
Regular monitoring and imaging studies are essential to track the growth of exostoses and assess for any signs of malignant transformation, which may require additional treatment.
Physical therapy can help improve joint mobility, muscle strength, and overall function in individuals with multiple hereditary exostoses.
Orthotic devices, such as shoe inserts or braces, can provide support and help alleviate pain associated with exostoses affecting the feet or ankles.
Genetic counseling may be beneficial for individuals with multiple hereditary exostoses to understand the inheritance pattern, assess the risk of passing the condition to offspring, and make informed decisions about family planning.

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Frequently Asked Questions

How can multiple hereditary exostoses be identified through its signs?

Multiple hereditary exostoses can be identified through signs like multiple bony growths (exostoses), limb deformities, and restricted joint movement.

What precautions should be taken for multiple hereditary exostoses?

Regular monitoring for new growths, annual orthopedic check-ups, physical therapy, protective gear during sports, and genetic counseling for family planning.

What are the potential complications of multiple hereditary exostoses?

Potential complications of multiple hereditary exostoses include bone deformities, restricted joint movement, nerve compression, and malignant transformation.

What steps should I take for the management of multiple hereditary exostoses?

Regular monitoring for new growths, pain management, physical therapy, and surgical removal of problematic exostoses are key steps in managing multiple hereditary exostoses.