Ehlers Danlos Syndrome (EDS)

EDS is a group of inherited disorders characterized by extremely loose joints, hyper-elastic skin that bruises easily andeasily damaged blood vessels. Other symptoms include joint pain, joint dislocation, double jointedness, flat feet, easily bruised damaged and stretchy skin, soft velvety skin, easily scarred tissue, poor wound healing, premature rupture of membranes at birth and vision problems, mitral valve prolapse, and periodontal disease.

Diagnosis of EDS is based on collagen typing via skin biopsy, collagen gene mutation testing, These patients can have a normal life span and normal intelligence depending on the type. There are six types.

Type I and II are also called the Classic type affecting between 1 and 20000 and 1 in 40000 live births. Type I is an autosomal dominant disorder while type II is both autosomal dominant and recessive. Both are characterized by loose joints, elastic velvety skin, fragile skin that tears and bruises, poor wound healing. Noncancerous fibrous growths on pressure areas like the elbows and knees, hernias, and heart valve problems.

Type III EDS also called the Hypermobility type is the most common form of EDS affecting 1 in 10000-15000 live births It is an autosomal dominant condition, and is characterized by loose unstable joints, soft velvety skin, chronic degenerative joint disease, advanced premature osteoarthritis, and heart valve problems.

Type IV or the Vascular type is the most serious type affecting 1 in 250000 live births. It is a autosomal dominant disorder. It involves fragile blood vesses and ogans that are prone to rupture, and thin fragile skin. The patients facial characteristics consist of protruding eyes, thin nose and lips, sunken cheeks and small chin. Fingers and toes are the most commonly affected joints. Diagnosis is usually made by skin biopsy for defects in collagen fibers.

Type VI or the Kyphoscoliosis type is very rare autosomal recessive disorder characterized by curvature of spine, fragile eyes prone to rupture, muscle weakness, and increased risk of rupture of medium sized arteries. Diagnosis is usually made by a urinalysis showing a deficiency of procollagen lysl hdroxylase enzyme.

Type VII A and B: VII A also called the Arthrochalasis type has only been reported in 30 cases. It is an autosomal dominant disorder characterized by loose joints, stretchy skin with common dislocations of hip joints, early onset arthritis, and increased risk of bone loss and fracture. Diagnosis is aided by genetic tests of the type I collagen. VIIB also known as the dematorparesis type is autosomal recessive and affects the skin, and joints. Patients usually have short stature, delayed closure of fontanelles, a facial appearance with swollen eyelids and bluish tint to the sclera.

No definitive treatment is available to treat the disease, only palliative care for bruising joint pain and dislocations, and heart valvular disease and blood vessel aneuryisms. These patients have limited physical activity especially as it relates to contact sports. If surgery is needed, stitches are not recommended because of tearing of the skin.

Since these patients can have a normal life span, dental treatment is a concern. Many of the types list mitral valve prolapse which requires SBE prophylaxis. As a connective tissue disorder, these patients are very susceptible to periodontal disease and also delayed wound healing. Caution is advised in the placement of these patients in the dental chair and manipulation of the facial tissues because of their likelihood of fragility of the skin and membraneous tissues of the mouth.

I think these patients offer a real challenge to the dentist because of the underlying systemic connective tissue problems.