A disease caused by prolonged severe dietary deficiency of ascorbic acid, in which the breakdown of intercellular cement substances leads to capillary haemorrhages and defective growth of fibroblasts, osteoblasts, and odontoblasts results in impaired synthesis of collagen, osteoid, and dentine; it is characterized by haemorrhagic gingivitis affecting especially the interdental papillae (in the absence of teeth, the gums are normal), subperiosteal haemorrhages, bone lesions (including the corner fraction sign, a ground-glass appearance, and trabecular atrophy) seen on radiography, perifollicular haemorrhages, and frequently petechial haemorrhages (especially on the feet). Sudden death may occur as a result of cerebral or myocardial haemorrhage. Megaloblastic anaemia, usually due to concomitant iron and/or folate deficiency, is usual. The early manifestations include weakness, lethargy, myalgia, and arthralgia. In the infantile form (in which onset usually occurs in the second 6 months of life), gingival involvement is minimal and the infant assumes a 'frog-like' position and does not move its legs (owing to the intense pain of subperiosteal haemorrhages). In the adult form there are intraarticular and intramuscular haemorrhages, and osteoporosis may occur. The disorder may occur in infants born to mothers who are consuming large doses of ascorbic acid, and in adults following the abrupt discontinuation of large supplemental doses (despite relatively normal dietary intake of ascorbic acid).
Source: International nomenclature of diseases. Vol. IV Metabolic, nutritional, and endocrine disorders. Geneva, World Health Organization, 1991, p. 283.