EDS is an autosomal dominant/recessive disorder of the connective tissue that is characterized by the hyper elasticity of the skin and hyper mobile joints.
The overall incidence of EDS is about 1 in 5,000 births, with a higher chance of occurrence in African Americans. Classical EDS and hyper mobile EDS are commonly diagnosed. Patients with milder forms frequently do not seek medical attention.
Classification & Types
- Classical EDS: (Type I) - Includes a severe form of the disease that is characterized by joint hyper mobility and skin that is velvety in texture, hyper extensible, and is easily scarred.
- EDS: (Type II) - It is a minor form of Type I.
- Hypermobile EDS (Type III) - Joint hyper mobility is more prominent than skin changes.
- Vascular-Type EDS (Type IV) - Skin changes are more prominent than joint changes and patients are predisposed to sudden death from rupture of large blood vessels or other hollow organs. Skin is thin, translucent, and fragile, with extensive bruising; hypermobile minor joints; characteristic facial appearance.
- EDS V- It is similar to EDS II but is inherited as an X-linked trait.
- Ocular-Scoliotic Type of EDS: (Type VI) – This is characterized by scoliosis, ocular fragility and a cone-shaped deformity of the cornea (keratoconus).
- Arthrochalasic Type of EDS: (Type VII A& B) - This is characterized by marked joint hyper mobility that is difficult to distinguish from EDS III except by the specific molecular defects in the processing of Type I procollagen to collagen.
- Periodontotic-Type EDS: (Type VIII) – This is distinguished by prominent periodontal changes.
- EDS IX, X, and XI: These are defined on the basis of preliminary biochemical and clinical data.
Symptoms & Signs
Skin changes are present where the skin can become thin and velvety which is either dramatically hyper extensible ("rubber man" syndrome) or easily torn or scarred. Patients with classical EDS (Type I) develop characteristic "cigarette-paper" scars. In Vascular-Type of EDS, extensive scars and hyper pigmentation develop over bony prominences and the skin may be thin enough that the subcutaneous blood vessels become visible. In Periodontotic Type of EDS, the skin is more fragile than hyper extensible and it heals with atrophic, pigmented scars. Easy bruising occurs in several Types of EDS.
Joint & ligament Changes:
Laxity and hyper mobility of joints vary from mild to irreducible dislocation of the hips and other large joints.
Mitral valve prolapsed
Degenerative arthritis due to extreme joint laxity and repeated dislocations
Difficulty in breathing
The diagnosis is based on clinical criteria, biochemical assays and gene analyses. Patients with easy bruising should be evaluated for bleeding disorders.
- In mild forms, patients can learn to reduce dislocations by limiting physical activity.
- In severe cases, surgical repair and tightening of joint ligaments can be undertaken; however majority ligaments in these patients do not hold sutures well.
- Surgical repair of aneurysm.
Women with Type IV EDS should be counseled about the increased risk of uterine rupture, bleeding, and other complications of pregnancy.