- Diaphyseal dysplasia 1, progressive
- Engelmann disease
Your QuestionI have had Camurati Engelmann disease since I was 5 years-old. I experience severe pain, headaches, and vision loss. Surgery has been recommended to treat the bone thickening in my skull. Will the skull bones grow back together following surgery? How can I learn more about medications, surgical procedures, and other treatments that have been effective in treating people Camurati Englemann disease?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
Less common signs and symptoms, include;
Symptomatic brain stem compression
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.
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 ClinicalTrials.gov 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.
CLINICAL, PATHOPHYSIOLOGIC AND THERAPEUTIC STUDIES
Cedars-Sinai Medical Center
FUNCTIONAL ANALYSIS OF TGFBM3 LOCUS IN VASCULAR DEVELOPMENT AND DISEASE
TGFBM2 IN DEVELOPMENT AND DISEASE
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
Baltimore, MD 21287
Web site: http://www.hopkinsmedicine.org/geneticmedicine/CR/SKD/index.html
International Skeletal Dysplasia Registry
Medical Genetics Institute
Pacific Theatres, 4th Floor
8700 Beverly Blvd.
Los Angeles, CA 90048
Click here to view their online e-mail form.
Web site: http://www.csmc.edu/3805.html