Which are the symptoms of Camurati-Engelmann disease?

Symptoms of Camurati-Engelmann Disease

Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare genetic disorder that affects the bones and muscles. It is characterized by the progressive thickening of the bones, particularly in the long bones of the arms and legs. This excessive bone growth can lead to various symptoms and complications.

1. Bone Pain

One of the primary symptoms of Camurati-Engelmann disease is bone pain. Individuals with this condition often experience deep, aching pain in their arms, legs, and sometimes the spine. The pain can be intermittent or constant and may worsen with physical activity or as the disease progresses.

2. Muscle Weakness

Camurati-Engelmann disease can cause muscle weakness and fatigue. The excessive bone growth can put pressure on the surrounding muscles, leading to reduced muscle strength and endurance. This can result in difficulties with mobility, coordination, and performing everyday tasks.

3. Gait Abnormalities

Individuals with Camurati-Engelmann disease may exhibit gait abnormalities. The thickened bones can affect the alignment and movement of the joints, leading to an altered walking pattern. This can manifest as a waddling gait or an unsteady walk.

4. Fatigue

Chronic fatigue is a common symptom of Camurati-Engelmann disease. The combination of bone pain, muscle weakness, and the body's constant effort to compensate for the abnormal bone growth can result in persistent tiredness and lack of energy.

5. Delayed Puberty

Delayed puberty may occur in individuals with Camurati-Engelmann disease. The disease can affect the production of certain hormones, leading to a delay in sexual development. This can include delayed onset of menstruation in females and delayed growth of facial hair in males.

6. Vision Problems

Some individuals with Camurati-Engelmann disease may experience vision problems. The thickened bones can put pressure on the optic nerves, leading to optic atrophy or other visual impairments. This can result in blurred vision, decreased visual acuity, or even partial blindness.

7. Headaches

Headaches are a common symptom in individuals with Camurati-Engelmann disease. The increased pressure within the skull due to thickened bones can cause frequent headaches, which may range from mild to severe.

8. Joint Stiffness

Joint stiffness and limited range of motion can occur in individuals with Camurati-Engelmann disease. The excessive bone growth can restrict the movement of joints, making them less flexible. This can lead to difficulties in performing activities that require joint mobility, such as bending, reaching, or lifting.

9. Hearing Loss

Hearing loss is a potential complication of Camurati-Engelmann disease. The thickened bones can affect the structures of the inner ear, leading to sensorineural hearing loss. This can result in difficulties with hearing and understanding speech.

10. Other Symptoms

In addition to the aforementioned symptoms, individuals with Camurati-Engelmann disease may also experience:

• Reduced height: The excessive bone growth can cause compression of the spine, resulting in a shorter stature.


• Easy fatigability: Individuals may tire easily, even with minimal physical exertion.


• Thickened skin: Some individuals may develop thickened skin on the palms and soles of the feet.


• Delayed motor milestones: Children with the disease may experience delays in reaching developmental milestones, such as sitting, crawling, or walking.


• Recurrent infections: The immune system can be compromised in some cases, leading to an increased susceptibility to infections.

If you or a loved one are experiencing any of these symptoms, it is important to consult with a healthcare professional for a proper diagnosis and appropriate management of Camurati-Engelmann disease.