Ehlers-Danlos syndrome (EDS) is a group of more than 10 different hereditary disorders caused by disruptions in either the synthesis or processing of collagen. The disorders are, therefore, characterized by dislocation, pain and increased hypermobility of joints, stretched, soft and velvety skin that is susceptible to bruising, easy scarring and poor wound healing, and vision problems.
The most common types of EDS are EDS I and EDS II, both of which show an autosomal dominant pattern. EDS I (Gravis type) characterized by hyperextensibility, abnormal wound healing, atrophic scars, and complications of joint hypermobility such as: dislocations, subluxations and pes planus. Other features include muscular hypotonia and delayed motor development.
The diagnosis of EDS I is established by family history and clinical examination, hyperextensibility should be tested at a neutral site, also joint hypermobility should be assessed using the Beighton scale. Specific diagnostic tests are available for some types of EDS in which there is a known biochemical defect.
EDS I treatments vary depending on how EDS affects the patients. Physiotherapy may benefit the children with hypotonia and delayed motor development. Non-weight-bearing exercise promotes muscle strength and coordination. Anti-inflammatory drugs may alleviate joint pain. Wounds need to be closed without tension. To prevent the primary manifestations, children with skin fragility can wear pads, bandages, or ski stockings with shin padding over the forehead, knees, and shins to avoid skin tears. Taking ascorbic acid (vitamin C) may reduce bruising. Since patients have an increased risk for developing a mitral valve prolapse, a heart ultrasound is also recommended for patients.
EDS Type I is a fairly non-serious disorder. Most patients have a normal life span and intelligence. Pregnancy, however, may be complicated, due to the skin problems. The incidence rate for this syndrome is less than 1 in 20,000. About 50% of the cases of classical EDS are caused by mutations in the COL5A1 (EDSCL1) or COL5A2 (EDSCL2) genes. Few mutations in the COL1A1 gene have also been reported in EDS I patients.