Epidermolysis bullosa
The characteristic feature of epidermolysis bullosa (EB)
is blistering of the skin.
Some forms of the disease may involve the
gastrointestinal tract, the pulmonary system, the muscles, or the
bladder.
Most forms are evident at birth.
This disorder can be both
disabling and disfiguring, and some forms may lead to early death.
Blisters result when skin layers separate after minor trauma. Defects of several proteins within the skin are at fault.
Some Common Heritable Disorders of Connective Tissue
- Ehlers-Danlos syndrome symptoms include changes in skin, joints, blood vessels, and other tissues such as ligaments and tendons.
- Marfan syndrome problems include skeletal malformations
- Osteogenesis imperfecta - bones that fracture easily, low muscle mass, and joint and ligament laxity