Ehlers-Danlos syndrome (EDS) is a collection of inherited conditions that fit into a larger group, known as heritable disorders of connective tissue.
Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones. Listed are the major types of EDS, though, rarer types have been discovered. (They used to be classified by numbers: Type I, Type II, etc. Since 1988, they are referred more now to their name.)
People with Classical EDS may have: joint hypermobility, loose, unstable joints that can lead to dislocations and subluxations (incomplete or partial dislocation of a joint), stretchy (hyperextensible) skin, fragile skin that can split easily – especially over the forehead, knees, shins and elbows, smooth, velvety skin that bruises easily, wounds can be slow to heal and leave wide, papery scars, in rare cases, there may be problems with the veins and arteriesfragile and stretchy tissues can also result in hernias and prolapse.
The Vascular Type of EDS is characterized by possible arterial or organ rupture as a result of spontaneous rupture of vessels or organs due to the result of even minor trauma. The Vascular Type of EDS is the most serious form of Ehlers-Danlos Syndrome.
People with vascular EDS may have: skin that bruises very easily because of fragile tissues, thin skin with visible small blood vessels, particularly on the upper chest and legs, fragile blood vessels – this can lead to major complications, such as blood vessels tearing (dissection) and arterial aneurysms (artery widening with a risk of rupture), risk of damage to hollow organs, such as bowel perforation or uterine rupture (where the womb tears),Occasionally there may be other features including: hypermobility of small joints (such as fingers and toes), premature ageing of the skin on hands and feet, unusual facial features, such as a thin nose and lips, large eyes, small earlobes and fine hair, joint contractures (permanent shortening of a joint), partial collapse of the lung (pneumothorax), gum problems, such as bleeding or receding gums, varicose veins in early adult life, wounds may take longer to heal
People with kyphoscoliotic EDS may have: curvature of the spine (scoliosis) – this starts in early childhood and often gets worse in the teenage years, loose, unstable joints that frequently lead to dislocations, weak muscle tone from childhood – this may cause a delay in sitting and walking, or difficulty walking if symptoms progress, fragile eyeballs that can easily be damaged, unusual shape or size of the clear front part of the eye (cornea), soft, velvety skin that is stretchy, bruises easily and scars
The Dermatosparaxis Type of EDS is characterized by severe skin fragility and substantial bruising. Wound healing is not impaired and the scars are not atrophic. The skin texture is soft and doughy. Sagging, redundant skin is evident. The redundancy of facial skin results in an appearance resembling cutis laxa. Large hernias(umbilical, inguinal) may also be seen. The number of patients reported with this type of EDS is small.
Tenascin-X Deficient Type