Abstract
AN ADULT with diffuse radiological osteosclerosis, enlarged corticalis, narrowed marrow space, and associated multiple fractures was described as a new clinical entity for the first time by Albers-Schönberg in 1904 (1). In the following decades patients with varying degrees of osteosclerosis and symptoms were designated Albers-Schönbergs disease or marble bone disease. Later the term osteopetrosis was introduced (2). Many patients with osteosclerosis, presumably secondary to generalized conditions, were initially recorded as having osteopetrosis (2). The reported cases of what might have been primarily osteopetrosis were very serious, were seen in childhood, and were often associated with consanguinity, indicating a recessive trait. Later, when radiological examinations were more common, patients with a more benign history were discovered with increasing frequency; these patients revealed a family history in accordance with an autosomal dominantly inherited condition. Johnston et al. (3) emphasized a true subdivision into two different types: 1) A malignant, autosomal recessive type, and 2) a mild, autosomal dominant inherited type. Intermediate forms with a rather mild course but autosomal recessive inheritance have recently been described (4–6). The diagnosis is based on characteristic radiological manifestations (sine qua non), which based on the existing descriptions (3, 7–9) will be defined in the present study as: Diffuse osteosclerosis, primarily involving the axial skeleton, but with symmetrical effects on the long bones, with little or no modeling defects.