A retrospective study on craniofacial fibrous dysplasia: preoperative serum alkaline phosphatase as a prognostic marker?

BACKGROUND: Craniofacial fibrous dysplasia (CFD) often requires surgery to correct facial deformity and prevent functional impairment. However, recurrence is common, and there is no reliable prognostic biomarker. The aim of this paper is to evaluate the possibility of using preoperative alkaline phosphatase (ALP) as a prognostic marker for CFD. MATERIAL AND METHODS: Forty-nine patients with CFD who underwent surgery from 2000 to 2011 were selected. The relationship between preoperative ALP and age, gender, lesion type and prognosis was investigated. RESULTS: The recurrence rate was 31.8% in patients who received conservative bone contouring. Patients with recurrence did not show significantly higher levels and abnormal rates of ALP than patients without recurrence. Young patients and those with polyostotic CFD showed higher ALP levels than adults and those with monostotic CPD (P < 0.05). Although CFD patients showed higher levels and abnormal rates of ALP than the control group, significant levels were not reached (P > 0.05). No correlation between age, gender, type, ALP and recurrence could be established using the logistic regression model. CONCLUSION: Preoperative ALP may not be a reliable prognostic marker of CFD based on the findings in this study. Close follow-up is recommended after conservative bone contouring.

Fibrous dysplasia of bone associated with primary hyperparathyroidism.

OBJECTIVE: Fibrous dysplasia of bone and primary hyperparathyroidism (PHPT) may occur in patients with McCune-Albright Syndrome. A small number of cases with both diagnoses that are not associated with the above-mentioned genetic disorder have been published in the literature. It is uncertain if these disorders are linked in some way. In the present study, we aimed to further explore a potential relationship between PHPT and fibrous dysplasia of bone. METHODS: We conducted a retrospective review of all cases seen at Mayo Clinic, Rochester, Minnesota, between 1976 and 2011 that were diagnosed with both PHPT and fibrous dysplasia of bone. RESULTS: We identified 10 patients who were diagnosed with both PHPT and fibrous dysplasia of bone. Fibrous dysplasia was polyostotic in 7 (70%) cases. It affected the lower extremities in 6 (60%) patients, the skull or facial bones in 4 (40%), and was localized to one rib in 1 patient (10%). In 4 patients, fibrous dysplasia was diagnosed first, between 9 to 50 years before being diagnosed with PHPT. Two cases of fibrous dysplasia were recognized between 2 and 5 years after the diagnosis of PHPT. The remaining 4 patients were diagnosed with both conditions at approximately the same time. CONCLUSION: It remains unclear if the association between fibrous dysplasia of bone and PHPT is more than coincidental, although the possibility of a rare familial genetic syndrome is not completely excluded.

Prognosis for craniofacial fibrous dysplasia after incomplete resection: age and serum alkaline phosphatase.

Complete resection is usually impossible for fibrous dysplasia (FD) involving the cranial base. Incomplete resection could be followed by regrowth of FD, but there is no method for indicating disease progress. Serum alkaline phosphatase (ALP) is significantly high in patients with FD. The authors investigate the relationship between ALP, progress of FD, and age at surgery. 18 patients with craniofacial FD were separated into 3 groups: Group A, complete resection; Group B, incomplete resection followed by regrowth of FD; and Group C, incomplete resection but no regrowth of FD. Medical records and CT scans were reviewed retrospectively. ALP levels were obtained preoperatively, postoperatively and every year during follow-up. The relation between ALP and regrowth and that between age at surgery and regrowth were investigated. There was no recurrence in Group A (n=4). Regrowth in Group B (n=7) was preceded by an abrupt increase in ALP. In Group C (n=7), no regrowth was observed and ALP was maintained within the normal range. 6 patients (85%) in Group B and 2 (28%) in Group C were under 17 years old. The results revealed that the level of postoperative serum ALP could be a reliable marker for predicting the progress of craniofacial FD.

Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome.

UNLABELLED: In patients with polyostotic fibrous dysplasia of bone, the peak incidence of fractures is during the first decade of life, followed by a decrease thereafter. Phosphaturia is associated with an earlier incidence and increased frequency of fractures. INTRODUCTION: Fibrous dysplasia (FD) is a disorder involving either one (monostotic) or several bones (polyostotic FD [PFD] and sometimes is associated with cafe-au-lait hyperpigmentation of the skin and one or more hyperfunctioning endocrinopathies (McCune-Albright syndrome [MAS]). Both PFD and MAS are often associated with phosphaturia. Although fractures occur frequently in PFD/MAS, fracture incidence and the effect of age and co-existing metabolic abnormalities (endocrinopathy and/or phosphaturia) on fractures are ill defined. MATERIALS AND METHODS: We reviewed the medical records and examined the endocrine and phosphorus metabolism of 35 patients with PFD/MAS. We report on the age at which extremity fractures occurred and their location and treatment. The results of endocrine and phosphorus metabolism testing and associations between age of first fractures, number of fractures, fracture rate, and metabolic abnormalities were noted. RESULTS: The average follow-up was 14.2 years (range, 2-39 years), during which 172 fractures occurred. The number and sites of fractures were 103 femoral, 25 tibial, 33 humeral, and 11 forearm. Twenty-seven patients had PFD with one or more endocrinopathies and/or phosphaturia, and eight had PFD alone. The endocrinopathies included precocious puberty (n = 19), hyperthyroidism (n = 9), growth hormone excess (n = 6), and one patient each with Cushing syndrome and primary hyperparathyroidism. Twelve patients had phosphaturia. The peak rate of fractures occurred between 6 and 10 years of age and decreased thereafter. Patients with metabolic abnormalities sustained their first fracture at an earlier age (6.9 versus 16.6 years, p < 0.005) and had a higher lifetime rate of fractures (0.29 versus 0.08 fractures/year), relative to patients with PFD alone. Phosphaturia was the single metabolic dysfunction associated with both an earlier age of first fracture (5.1 versus 16.6 years, p < 0.05) and a greater lifetime fracture rate (0.35 versus 0.08 fractures/year, p < 0.05). CONCLUSIONS: The occurrence of extremity fractures in FD peaks between 6 and 10 years of age and declines thereafter. Fractures occur earlier and more frequently in the presence of phosphaturia. These data have implications for long-term prognosis, clinical management, and interpretation of therapeutic interventions.

Acromegaly and hyperprolactinemia in a patient with polyostotic fibrous dysplasia: dynamic endocrine studies and treatment with the somatostatin analogue octreotide.

Acromegaly and hyperprolactinemia have been described in association with polyostotic fibrous dysplasia; the pathogenetic mechanisms involved in the development of the endocrinopathies is unknown. We report a 26-year-old man with polyostotic fibrous dysplasia and hypersecretion of GH and PRL. Plasma GH, PRL, and insulin-like growth factor-I (IGF-I) were elevated. Glucose-non-suppressible plasma GH concentrations, GH responsiveness to TRH and GHRH, and GH suppression after a test-dose of somatostatin, octreotide, and bromocriptine were found. Plasma GHRH levels were within the normal range (< 25 ng/l). Computed tomography of the sella turcica and visual fields were normal. [111In-DTPA-D-Phe1]-octreotide scintigraphy were used to localize a possible tumor; no radioactivity was visualized at the site of the hypothalamus, the pituitary or elsewhere in the body but a considerable accumulation of radioactivity was found in the os frontalis. Therapy with octreotide by continuous sc infusion partially suppressed GH and IGF-I (and normalized PRL). The results suggest that hypersecretion of GH in our patient is not due to a GH-secreting pituitary tumor, eutopic or ectopic hypersecretion of GHRH or autonomous somatotroph function. The origin of the disease in this patient might be an abnormal hypothalamic regulation of somatotrophs and/or an alteration in the transmembrane signalling systems.

[Fibrous dysplasia of the temporal bone and cerebral occlusive vasculopathy: report of a case]. / Displasia fibrosa do osso temporal e vasculopatia oclusiva cerebral. Relato de caso.

Fibrous dysplasia is a benign disease with unknown etiology. Skull attempt may cause neurological disorders. The diagnostic can be made through radiological examination. A case of a patient with right temporal bone involvement with facial palsy, right parietal lobe infarctions and elevated anticardiolipin antibody titers is presented. Cerebral angiography showed occlusion of several cerebral arteries. Post mortem examination displayed recent myocardial infarction, ischemic cerebral softening, and generalized arteriosclerosis. The simultaneous occurrence of fibrous dysplasia and a probable anticardiolipin syndrome is commented.