Polyostotic Fibrous Dysplasia: Review of the Literature with Two Additional Cases

Abstract

History Ever since the publication of von Recklinghausen's (91) monograph in 1882, the literature on fibrocystic disease of bone has become increasingly abundant and confusing. In retrospect, it is obvious that von Recklinghausen described not one disease but a number of heterogeneous, unrelated pathologic conditions which had, as a common denominator, the production of fibrocystic-like bone changes. For many years, his name has been associated with hyperparathyroidism and neurofibromatosis. As a matter of fact, it is not unlikely that some of his original cases may have been examples of polyostotic fibrous dysplasia. The latter disease entity was first popularized in this country by Albright and his co-workers in 1937 (3) and by Lichtenstein in 1938 (50). It had been known on the continent for some time prior to its recognition here. In 1922, Wieland (98) in Germany wrote an article entitled Osteitis Fibrosa Cystica Congenita, which may well have been a discussion of polyostotic fibrous dysplasia. The same year, Weil (94) reported a classical case of polyostotic fibrous dysplasia under the title Precocious Puberty and Bone Brittleness. Weiss (95), in 1923, published a paper on the unilateral variety of multiple chondromata, which probably referred to polyostotic fibrous dysplasia. In 1929, Winter (99) presented a case of generalized osteitis fibrosa cystica in the absence of a parathyroid tumor. The same year, Ivimey (42), for the first time in the American literature, described a typical case under the title Bone Dystrophy with Characteristics of Leontiasis Ossium, Osteitis Deformans, and Osteitis Fibrosa Cystica in a Child. Two years later, in 1931, Telford (83) in England published the first gross and microscopic description of the pathologic nature of the disease. At the same time, Hunter and Turnbull (40), in their article on hyperparathyroidism, listed one case which was probably polyostotic fibrous dysplasia. The following year, Leader and Grand (49), Gaupp (30), Priesel and Wagner (68), Freedman (25), and Braid (9) also reported isolated cases of polyostotic fibrous dysplasia. In 1933, Snapper and Parisel (77) described a case of polyostotic fibrous dysplasia under the title Xanthomatosis Generalisata Ossium. During the same year, Rypins (73), Fairbank (22), Salzer (74), and Stalmann (79) contributed additional examples to the literature. In 1934, Goldhamer (31), and Freund (26) wrote papers describing this disease under the name of osteodystrophia fibrosa unilateralis, while Borak and Doll (7) reported a case which they termed unilateral von Recklinghausen's disease of bone and precocious puberty. Hummel (39) described three cases as juvenile Paget's disease. The following year, Elmslie (21) discussed generalized osteitis fibrosa cystica not due to hyperparathyroidism, and in 1936, Freund and Meffert (27) enumerated the various forms of non-generalized fibrous osteodystrophy. In spite of these individual reports, the significance of polyostotic fibrous dysplasia was not fully appreciated in this country until Albright and Lichtenstein, working independently, published their observations in 1937 and 1938. Since that time, numerous case reports have found their way into the literature, and a more widespread recognition of the disease has been achieved.