POLYOSTOTIC FIBROUS DYSPLASIA: A DEFENSE OF THE ENTITY

Publisher Website
Google Scholar
Abstract
This paper concerns the syndrome which in its complete form is characterized by 1) a disseminated osteitis fibrosa (both hyper-and-hypo-ostotic) with a seg-mental distribution, 2) areas of cutaneous pigmentation which have a distribution suggesting some connection between them and the bone lesions, and 3) sexual and somatic precocity when the condition occurs in the [female] . The author believes this syndrome is not a form of lipid granulomatosis (xanthomatosis) because: a) the blood cholesterol level is not abnormal (a minor piece of evidence); b) bone biopsies show "foam cells" only infrequently; c) the bone lesions show only a slight tendency to progress, clear up spontaneously, and are not radio-sensitive; d) the segmental distribution of the bone and skin lesions is not suggestive of a metabolic disorder; e) the x-rays show increased bone formation as well as bone destruction; f) the areas of cutaneous pigmentation are not characteristic of lipid granulomatosis; g) when the disease is widespread the serum phosphatase level is high; and h) sexual precocity in [female] [female] is not a feature of lipid granulomatosis. The author believes this syndrome is not a form of neurofibromatosis (von Recklinghausen) because: a) multiple cutaneous fibromata and widespread bone disease with evidence of increased as well as decreased bone formation were not present in the same individual; b) the syndrome does not tend to run in families; c) sexual precocity in [female] [female] is not characteristic of neurofibromatosis although sexual precocity, especially in [male] [male], occasionally occurs because of neurofibroma in the region of the hypothala-mus (pineal syndrome); d) an autopsy on a patient with the syndrome showed as a possible cause of the precocity not a tumor but a lesion in one mammilary body; e) the bone lesions in neurofibromatosis are not extensive, do not show new bone formation, and are-confined to certain localities, notably the upper ends of the tibias and the lower ends of the femurs; f) the areas of cutaneous pigmentation in neurofibromatosis usually have smooth edges rather than the irregular edges which characterize the areas in the syndrome under discussion; g) elephantiasis, so common in neurofibromatosis, has not been found in this syndrome. The terminology is discussed with the conclusion that the condition had best be termed "polyostotic fibrous dysplasia" as suggested by Lichtenstein.