Ehlers-Danlos syndromes is a group of disorders which share common features including easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues. The Ehlers-Danlos syndromes are inherited in the genes that are passed from parents to offspring. They are categorized according to the form of genetic transmission into different types with many features differing between patients in any given type. The fragile skin and loose joints is often a result of abnormal genes that produce abnormal proteins that form an inherited frailty of collagen (the normal protein "glue" of our tissues).
Clinical manifestations of EDS are most often joint and skin related and may include:
Joints: joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint's normal range); early onset of osteoarthritis.
Skin: soft velveta like skin; variable skin hyper-extensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas).
Miscellaneous/Less Common: chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type); Scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type); mitral valve prolapse; and gum disease.
There are six major types of EDS. The different types of EDS are classified according to the signs and symptoms that are manifested. Each type of EDS is a distinct disorder that "runs true" in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS
The diagnosis of Ehlers-Danlos syndromes is based upon the clinical findings of the patient and the family history. For some types of Ehlers-Danlos syndrome a skin biopsy to determine the chemical makeup of the connective tissue can help to suggest the diagnosis.
Ehlers-Danlos syndromes are treated according to what particular manifestations present in a given individual. Skin protection (from injury of trauma and sun, etc.) is critical. Wounds must be tended to with great care and infections treated and prevented. Suturing can be difficult as the skin can be extremely fragile. Joint injury must be avoided. Occasionally, bracing may be necessary to maintain joint stability. Exercises that strengthen the muscles that support the joints can help to minimize joint injury. Contact sports and activities involving joint impact should be avoided.