The Radiologic Features of Neurofibromatosis

Abstract

Neurofibromatosis (von Recklinghausen) is a curious, often familial disease which in its severe forms is readily recognized by the association of multiple tumors of the peripheral nerves with areas of pigmentation in the skin, so-called café au lait spots. Other features, such as involvement of the central nervous system and the skeleton, are less frequently encountered but are of relatively greater importance to the radiologist. In order to investigate particularly the bone manifestations of this disease, we have reviewed the records and roentgenograms of 127 patients with von Recklinghausen's disease seen at the University of Michigan Hospital in the thirteen-year period between 1934 and 1947. Material derived from this study forms the basis for the present report. Historical Smith in 1849 comprehensively described neurofibromatosis, but failed to recognize the nerve-sheath origin of these multiple tumors (1). In spite of frequent additional references to molluscum fibrosum in the interim, it was not until 1882 that von Recklinghausen (2) established the true nature of the tumors and indelibly associated his name with this disease. He recognized that it was not an acquired condition and Thomson (3) in 1900 pointed out clearly its hereditary nature. Later, Preiser and Davenport (4) were able to show that neurofibromatosis appears in both sexes and follows the Mendelian law as a dominant trait. In regard to bone changes, Adrian (5) reviewed the literature in 1901 and found scoliosis, skeletal anomalies, atrophy, and hypertrophy of individual bones and other defects frequently mentioned in descriptions of patients with neurofibromatosis. Illustrations from Treve's account of the “elephant man” in 1885 show a clear-cut example of neurofibromatosis with bone involvement (6). Gould (7), in 1918, and Weiss (8), in 1921, commented on the frequent association of scoliosis. In 1922, Stahnke (9) recognized the varied skeletal lesions as an integral part of this disease and observed that many of the defects in bone apparently resulted from pressure, being closely associated with overlying soft-tissue neurofibromas. Brooks and Lehman (10) were the first to present a comprehensive classification of the skeletal changes in neurofibromatosis in the American literature. In 1924, they reported findings in seven patients and described three separate types of bone abnormality, including scoliosis, abnormalities of bone growth, and irregularity of outline of the shafts of long bones, “including changes which in the x-ray appear as subperiosteal cysts.” Incomplete forms of von Recklinghausen's disease, including those with pigmentation only, had been described by Weber (6) in 1909 and, following this line of reasoning, Leader and Grand (11), in 1932, were able to tabulate 21 instances in which pigmentation in early childhood was followed in later years by typical neurofibromatosis.