Ehlers-Danlos Syndrome (EDS) is not a commonly known disorder, even though several types are listed in the medical books and one in 20,000 people has the disease. Some cases may not be diagnosed because of the variability in symptoms, which include elastic skin, joint pain, easy bruising, poor wound healing and excessively mobile joints.

UCSF researchers have discovered that a deficiency in the gene producing the protein tenascin-X, or TNX, is a cause of EDS. It appears that this protein has unique functions in the development and strength of connective tissue.

The UCSF study was reported by James D. Bristow, MD, assistant professor in the department of pediatrics, at the recent combined annual meeting of the American Pediatric Society, Society for Pediatric Research, and Ambulatory Pediatrics Association in Washington, DC.

The research finding was based on the results of a skin biopsy from a 26-year-old man whose symptoms were typical of EDS.

The importance of the UCSF finding is that it provides a new candidate gene for evaluation in EDS patients. It may also uncover new clues about the mechanism of the disorder, according to the researchers.

"EDS patients often can bend their thumbs back to their wrist bones and many have frequent dislocations that require surgery. Joint pain is also common," noted Bristow. In addition, some have skin that appears "doughy."

Most people with EDS have no recourse for treatment except for supportive therapy, according to Bristow. Some patients with the common forms of EDS find they cannot work, and others with more serious forms show effects such as artery and uterine rupture or eye problems.

By Mary Jean Pramik

1st appeared 5/13/97