(see also: Marfan's Syndrome)
Discussion
- autosomal dominant disorder characterized by hyperextensibility of "cigarette paper" skin joint hypermobility and dislocation, soft
tissue/bony fragility, and soft tissue calcification;
- joint effusions and arthralgias are common, and children are often misdiagnosed with forms of arthritis;
- all forms the disease may cause skin fragility, bruising, scarring, joint discomfort and osteoarthritis;
- cutaneous manifestations are present in all forms;
- skin is soft, velvety, and may be abundant over hands & feet;
- it is hyperextensible, but returns immediately to normal configuration when released;
- it may be extremely fragile, splitting after insignificant trauma;
- wounds are characterized by minor bleeding and dehiscence;
- sutures may pull out of surgical wounds;
- subtypes:
- some forms are produced by mutations in genes for type I or type III procollagens, but others are produced by defects
in enzymes (lysine hydroxylase deficiency) required for the assembly or processing of procollagens;
- marked heterogeneity (differing mutations in the same genes causing the same disease w/ varying degrees of clinical
severity);
- type II is most common and least disabling;
- type IV:
- the vascular type, which causes severe and often fatal rupture of the bowel, other organs, and large arteries;
- is rare but very severe form of syndrome in that it frequently produces rupture of large arteries and hollow organs;
- defect of type III procollagen in Ehlers-Danlos syndrome;
- in the study by Pepin M, et al. (2000), the authors reviewed the clinical and family histories of and medical and surgical
complications in 220 index patients with biochemically confirmed Ehlers-Danlos syndrome type IV and 199 of their
affected relatives;
- COL3A1 mutation was found in 135 index patients.
- 25 % of the index patients had a first complication by the age of 20 years;
- more than 80 percent had had at least one complication by the age of 40;
- calculated median survival of the entire cohort was 48 years;
- most deaths resulted from arterial rupture;
- bowel rupture, which often involved the sigmoid colon, accounted for about a quarter of complications but
rarely led to death;
- complications of pregnancy led to death in 12 of the 81 women who became pregnant;
- Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
- Treatment:
- consists of PT, orthotics, & arthrodesis;
- soft tissue procedures fail
Medical Progress: Heritable Diseases of Collagen.
Spinal deformity in Ehlers-Danlos syndrome. Five patients treated by spinal fusion.