Most forms of EDS are autosomal dominantly inherited, and mutations are in the COL1A1, COL1A2, COL1A2, CO元A1, COL5A1, to name a few. There are 13 EDSs, and signs and symptoms vary based on the type of EDS. This is a group of inherited connective tissue disorders that affect about 1 in 5000 individuals globally. Bisphosphonates, surgery, and physiotherapy have been shown to help. There is no cure and treatment is supportive and based on the prevention of fractures. OI affects 1 in 15,000 people, and diagnosis is made clinically and can be confirmed by DNA or collagen testing. Gene mutations affect procollagen formation in which the small glycine amino acid is substituted for bulkier amino acids which alter the collagen triple helix structure. There are 8 types, each with differing degrees of severity with type 1 the mildest and type II the most severe. Inheritance is autosomal dominant, and most cases are due to mutations in the COL1A1 or COL1A2 genes. This is a family of genetic disorders that affect the bones making them weak and easily breakable. Treatment is vitamin C supplementation and a diet that includes tomatoes, citrus fruits, and other vegetables high in vitamin C. Ascorbic acid levels less than 11 micromols/L can help confirm the diagnosis. Scurvy is diagnosed clinically with a dietary history, and x-rays may show subperiosteal hemorrhage or cortical thinning. There can also be fragile hairs arranged in a corkscrew confirmation. These areas appear as bruise-like spots around the hair follicles. Clinically, one of the first signs of scurvy occurs on the skin and manifests as perifollicular hemorrhage where follicles of the skin are plugged with keratin. Patients may present with general fatigue, weakness, poor wound healing, anemia, and gum disease. Scurvy is rare in the developing world and is mostly seen in infants, the elderly, and alcoholics, all who may have inadequate nutritional intake and malnutrition. A few notable diseases are scurvy, osteogenesis imperfecta, and Ehlers–Danlos syndrome.Ī nutritional deficiency of water-soluble vitamin C or ascorbic acid most commonly causes scurvy. Errors of collagen synthesis can present with clinical manifestations. As discussed earlier, there are issues of concern in the biochemical synthesis of collagen.

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