Camurati-Engelmann disease

What causes Camurati-Engelmann disease?

Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGFβ-1). The TGFβ-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGFβ-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGFβ-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix).

Within cells, the TGFβ-1 protein is turned off (inactive) until it receives a chemical signal to become active. The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of a TGFβ-1 protein that is always turned on (active). Overactive TGFβ-1 proteins lead to increased bone density and decreased body fat and muscle tissue, contributing to the signs and symptoms of Camurati-Engelmann disease.

Some individuals with Camurati-Engelmnan disease do not have identified mutations in the TGFB1 gene. In these cases, the cause of the condition is unknown.

Last updated on 05-01-20

How is Camurati-Engelmann disease diagnosed?

Diagnosis of Camurati-Engelmann disease is based on physical examination and radiographic findings and can be confirmed by molecular genetic testing. TGFB1 is the only gene known to be associated with Camurati-Engelmann disease. Sequence analysis identifies mutations in TGFB1 in about 90% of affected individuals and is clinically available.

Individuals with a family history of Camurati-Engelmann disease or symptoms associated with this condition may wish to consult with a genetics professional. Visit the Find a Specialist __ section on this page to learn how you can locate a genetics professional in your community.

Last updated on 05-01-20

How is Camurati-Engelmann disease inherited?

Camurati-Engelmann disease is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

Last updated on 05-01-20

What is the typical outlook for people with Camuratic Englemann disease following surgery to treat skull thickening?

Around half of people with Camurati-Engelmann disease have skull base thickening and around one-fourth of these people develop symptoms. Symptoms may be constant or come and go. Some patient's symptoms stabilize, while other's worsen with time. Signs and symptoms reported in the medical literature, include;

Hearing loss
Bulging eyes
Prominent forehead

Less common signs and symptoms, include;

Vision changes
Facial weakness
Symptomatic brain stem compression
Facial numbness
Loss of smell

Treatment of symptoms due to skull base thickening may involve aggressive decompression surgery in carefully selected patients. Corticosteroids and bisphosphates that may improve symptoms in the arms, legs, and torsos of some patients, have not been shown to improve symptoms caused by skull base thickening. Decompression surgery is challenging and patients are at an increased risk for complications with surgery. The form of decompression surgery will vary depending on the skull involvement and symptoms experienced by the patient. Likewise the risks for complications vary depending on these factors.

Following surgery it is possible for the bone to regrow. A recent review article found that 3 of 28 cases reported in the literature described bony regrowth following decompression surgery.

To learn more about your surgical options and to be counseled regarding the associated risks, we recommend that you speak with your healthcare provider.

Last updated on 05-01-20

How can I learn more about medications, surgical procedures, and other treatments that have been effective in treating people Camurati Englemann disease?

You can search the medical literature for current articles describing the treatment of Camurati Englemann disease using, a searchable database of medical literature. Click on "PubMed" to view a sample search on this topic.

GeneReviews provides current, expert- authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

The U.S. National Institutes of Health, through the National Library of Medicine, developed to provide patients, family members, and members of the public with current information on clinical research studies. Currently no trials are listed as enrolling people with Camurati Englemann disease specifically, however there is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you. Click on the study title to learn more.

The Research Portfolio Online Reporting Tool (RePORTER) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the embedded link above and enter the disease name in the “Terms Search” box. Then click “Submit Query”.

Our search of RePORTER identified the following research studies which may be of interest to you.

David Rimoin
Cedars-Sinai Medical Center

Rosemary Akhurst
University of California San Francisco

You may also be interested in learning more about the following patient research registries:

Greenberg Center for Skeletal Dysplasias
Johns Hopkins University
Institute of Genetic Medicine
600 North Wolfe Street
Blalock 1008
Baltimore, MD 21287
Telephone: 410-614-0977
Web site:

International Skeletal Dysplasia Registry
Medical Genetics Institute
Pacific Theatres, 4th Floor
8700 Beverly Blvd.
Los Angeles, CA 90048
Phone: 800-233-2771
Fax: 310-423-0462
Click here to view their online e-mail form.
Web site:

Last updated on 05-01-20

How might Camurati-Engelmann disease be treated?

Treatment for Camurati-Engelmann disease depends on the symptoms and severity in each person. Several medications, including corticosteroids, biphosphonates, and non-steroidal anti-inflammatory drugs (NSAIDs), have been used to manage the symptoms of Camurati-Engelmann disease (CED). NSAIDs and bisphosphonates have not been proven to be effective for most people with CED. Corticosteroids may relieve some of the symptoms such as pain and weakness, and can also improve gait and exercise tolerance. However, they have serious side effects with long-term use.

More recently, losartan, an angiotensin II type 1 receptor antagonist, has been reported to reduce limb pain and increase muscle strength in multiple case reports. However, the use of losartan needs more study to determine if it is effective and safe for those with CED. Exercise programs, when tolerated, have also been found to be beneficial.

Surgical procedures may also be needed in people with CES. Craniectomy, which involves removing a portion of the skull to relieve pressure on the brain, may be needed to reduce intracranial pressure and relieve symptoms in some people. Myringotomy, a procedure used to relieve pressure within the middle ear, may improve conductive hearing loss from fluid build-up in the ear.

Ongoing surveillance by various specialists may be needed to monitor signs and symptoms and make sure medical therapies remain safe to use. Depending on each person's symptoms and treatment, a person with CES may need periodic blood pressure checks, blood tests, neurologic exams, hearing evaluations, eye exams, bone density scans, or other types of surveillance. Children with CES should have routine growth monitoring, and those with cranial involvement (including those treated surgically) should continue to be monitored for signs and symptoms of increased intracranial pressure.

Please note: Case reports detail the signs and symptoms in individual cases. It is important to keep in mind that the features documented in these case reports are based on specific individuals and may not necessarily apply to others with the same disease.

Last updated on 05-01-20

Name: European Skeletal Dysplasia Network Institute of Genetic Medicine Newcastle University
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom
Email: Url:
Name: Greenberg Center for Skeletal Dysplasias Johns Hopkins University Institute of Genetic Medicine
600 North Wolfe Street Blalock 1008
Baltimore, MD, 21287, United States
Phone: 410-614-0977 Email: Url:
Name: European Skeletal Dysplasia Network Institute of Genetic Medicine Newcastle University
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom
Email: Url:

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