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Ehlers-Danlos syndrome (EDS) is an inherited disorder of connective tissue (skin, bone, cartilage, and similar structural tissues) that involves mutations of collagen (the body's major structural protein) and features joint hypermobility, skin hyperelasticity and fragility, and a variety of other problems. One rare and unusual type of EDS, type VIII EDS, is characterized by gum disease and premature loss of teeth. A case of EDS with these features is described; the patient also had bone problems, vasculitis (inflammation of blood vessels), and heart valve disease. The patient developed more or less normally until puberty, except for premature loosening of permanent teeth. Soon after the start of menstruation, widespread hives with underlying small-vessel vasculitis developed. Arthritis in multiple joints then developed, and steroids failed to heal the skin problems. Vasculitis remained confined to the skin, however. Over a 10-year period, since age 15, joint dislocations, erosive arthritis, and severe osteolysis (bone destruction) occurred, as have classic signs involving skin and joints. Insufficiency of several heart valves occurred, with hypertrophy (overgrowth) of heart chambers slowly developing. Modern laboratory techniques were used to analyze the patient's collagen. Two subtypes of type I collagen were present in both a normal and abnormal form, and the abnormal type apparently could not be secreted efficiently by cells for use in structural tissues. The patient had T lymphocytes (immune cells important in fighting foreign organisms) which reacted with the type I collagen; collagen is usually inert to the immune system and a protein made by the T cells which reacted with the collagen was detected. The report suggests that the collagen-binding protein may play a role in the development of this patient's disease. (Consumer Summary produced by Reliance Medical Information, Inc.)