Ehlers-Danlos syndrome
The problems present in Ehlers-Danlos syndrome (EDS), a
group of more than 10 disorders, include changes in the physical
properties of skin, joints, blood vessels, and other tissues such as
ligaments and tendons.
People with EDS have some degree of joint
looseness, fragile small blood vessels, and abnormal scar formation and
wound healing. Soft, velvety skin stretches excessively but returns to
normal after being pulled.
Some forms of EDS can present problems with the spine, including a curved spine, and the eyes. EDS can also lead to weak internal organs, including the uterus, intestines, and large blood vessels. Mutations in several different genes are responsible for varying symptoms in the several types of EDS. In most cases, the genetic defect involves collagen, the major protein-building material of bone.
ARTICLES
Oral Manifestations of Ehlers-Danlos Syndrome
Ehlers-Danlos, Kyphoscoliotic Type, NIHEhlers-Danlos, Vascular Type, NIH
Ehlers Danlos Orthopaedics and Sports Medicine, University of Washington
Ehlers Danlos, Arthritis Foundation
About Ehlers Danlos, University of Washington
Treatment of Ehlers-Danlos syndrome focuses on managing symptoms and preventing complications. it may include the following:
- Physical therapy.
- Drugs.
- Surgery.
- Follow-up.
- Genetic consultation and counseling.
See in more detail at Mayo Clinic
Some other Common Heritable Disorders of Connective Tissue
- Epidermolysis bullosa has blistering of the skin
- Marfan syndrome problems include skeletal malformations
- Osteogenesis imperfecta - bones that fracture easily, low muscle mass, and joint and ligament laxity
list of publications from Mayo Clinic about Ehlers-Danlos syndrome on PubMed
DISCLAIMER: The information on this site is for educational purposes only, and should not be used as a substitute for treatment by a health care practitioner