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Fibrous Dysplasia


Presentation

  • In a retrospective chart review, 4 patients presenting to tertiary care centers from January 1, 2006, to January 31, 2008, were identified and their presenting symptoms and radiologic findings reviewed.[ncbi.nlm.nih.gov]
  • Abstract Fibrous dysplasia (FD) is a benign bone disorder presenting with a variety of clinical manifestations. This is the first reported case of anosmia as presenting symptom of FD.[ncbi.nlm.nih.gov]
  • We discuss the diagnosis and present a brief review of fibrous dysplasia.[ncbi.nlm.nih.gov]
  • Patient presented with bilateral leg pain on examination and imaging showed bilateral tibia lytic lesion.[ncbi.nlm.nih.gov]
  • Cortical disruption is considered evidence of malignancy, but it can also be present in benign FD with aggressive behavior.[ncbi.nlm.nih.gov]
Abdominal Obesity
  • ., hypertension, facial plethora, abdominal obesity, developmental delay, failure to thrive If no signs or symptoms of hypercortisolism after age 3 yrs, no further evaluation needed Renal Serum phosphorus level Verification by calculating tubular reabsorption[ncbi.nlm.nih.gov]
Plethora
  • ., hypertension, facial plethora, abdominal obesity, developmental delay, failure to thrive If no signs or symptoms of hypercortisolism after age 3 yrs, no further evaluation needed Renal Serum phosphorus level Verification by calculating tubular reabsorption[ncbi.nlm.nih.gov]
Recurrent Sinusitis
  • Patients typically complain of nasal congestion ( 34% of those with symptoms and sinus involvement), headaches or facial pain, recurrent sinusitis, and hyposmia.[doi.org]
Wheelchair Bound
  • A 5-point score was used: 0, bed-wheelchair-bound; 1, walking with aids possible, but nonfunctional; 2, household walker, with/without aids; 3, neighborhood walker with/without aids; and 4, independent walker ( 17 ).[doi.org]
Splenectomy
  • There have been reports of bone marrow failure with pancytopenia and extramedullary hematopoiesis requiring splenectomy in individuals with FD/MAS [ Mahdi et al 2017, Robinson et al 2018 ]. Breast cancer.[ncbi.nlm.nih.gov]
Severe Clinical Course
  • Also, in our series, subjects with McCune-Albright syndrome tended to experience a more severe clinical course.[doi.org]
Normal Stature
  • Its presentation may be as subtle as normal stature in a young adult who experienced precocious puberty and should have short stature as a consequence of early growth plate closure.[doi.org]
  • JAMA 251 : 2223 – 2230 30. 1990 Assessment of growth hormone secretion in normal stature children using 24-hour integrated concentration of GH and pharmacological stimulation.[doi.org]
Long Bone Deformity
  • Most patients will develop fractures and long bone deformity in the absence of surgical intervention.[doi.org]
Fear
  • In some patients, the fear of malignant disease may be so profound that the surgeon is unable to adequately reassure the patient of the benign nature of the process.[doi.org]
Neurologic Manifestation
  • The most common neurologic manifestations of fibrous dysplasia (FD) are vision and hearing loss.[ncbi.nlm.nih.gov]
Aura
  • The authors experienced a patient of fibrous dysplasia originating from the ethmoid bone which presented with severe headache with some features suggestive of menstrual migraine without aura.[ncbi.nlm.nih.gov]

Workup

  • A 43-year-old woman with breast cancer underwent Tc-hydroxymethylene diphosphonate bone scintigraphy for preoperative workup.[ncbi.nlm.nih.gov]
Pleural Mass
  • Chest radiograph shows expansion of multiple ribs involved by fibrous dysplasia that mimics pleural masses. Spine Spinal involvement is common in polyostotic disease and rare in monostotic disease.[emedicine.com]

Treatment

  • In patients with severe symptoms medical treatment can be implemented, but safety of this treatment in children remain controversial.[ncbi.nlm.nih.gov]
  • Treatments were assessed through mid-term follow-up.[ncbi.nlm.nih.gov]
  • CONCLUSION: Computer-based surgical planning associated with the production of custom-made titanium implants is a highly promising method for the treatment of cranial FD.[ncbi.nlm.nih.gov]
  • A, Proximal femur of patient 13 at the start of pamidronate treatment. B, After 2.0 yr of treatment.[doi.org]
  • Treatment of fibrous dysplasia of bone with intravenous pamidronate: long-term effectiveness and evaluation of predictors of response to treatment. Bone. 2004 ; 35 : 235 – 242. 14..[doi.org]

Prognosis

  • The prognosis may be difficult to establish because of the wide spectrum of disease severity. We have analyzed the data from the French National Reference center for FD. We have established a database from standardized medical records.[ncbi.nlm.nih.gov]
  • Clinical features, management, and prognosis were also analyzed for each of the 10 cases.There were 8 male and 2 female patients (mean age 46.5   15.9 years).[ncbi.nlm.nih.gov]
  • : Microscopic Fibrous Dysplasia : Microscopic Fibrous Dysplasia : Microscopic Fibrous Dysplasia : Microscopic Fibrous Dysplasia : Microscopic Fibrous Dysplasia : Molecular Genetics Fibrous Dysplasia Fibrous Dysplasia Fibrous Dysplasia : Treatment & Prognosis[webpathology.com]
  • These findings have implications for prognosis, the timing and type of therapy, and the development of trials of new therapies and their interpretation.[doi.org]
  • The prognosis generally is good, although poor outcomes are more frequent in younger patients and in those with polyostotic forms of the disease. The risk of malignant transformation is low. Dr.[journals.lww.com]

Etiology

  • Fibrous dysplasia is a nonneoplastic, developmental disease of the bone that begins in childhood with obscure etiology. Clinically, it is presented as a continuously growing, painless mass at late childhood.[ncbi.nlm.nih.gov]
  • Fibrous dysplasia is a benign fibro-osseous disorder of unknown etiology that may affect the craniofacial region causing significant impairment of facial esthetics and function.[ncbi.nlm.nih.gov]
  • Fibrous dysplasia is considered to be a developmental, tumor-like (hamartomatous), fibro-osseous disease of unknown etiology. There is a maxillary predominance when craniofacial FD occurs in the jaws and the maxillary sinus is commonly involved.[ncbi.nlm.nih.gov]
  • Fibrous dysplasia (FD) is a rare, benign disease of unclear etiology where normal bone is replaced with abnormal fibrous and weak osseous tissue. Any bone of the skeleton might be involved but skull is one of the most commonly affected sites.[ncbi.nlm.nih.gov]
  • The etiology of visual loss in orbital fibrous dysplasia is still unclear, with many theories proposed in recent literature.[ncbi.nlm.nih.gov]

Epidemiology

  • The authors review the biological, epidemiologic, clinical, genetic, and radiographic characteristics of adult FD, with an emphasis on surgical management of FD.[ncbi.nlm.nih.gov]
  • Updated Molecular and Epidemiologic diagrams added to all new chapters.[books.google.de]
  • Literature regarding the epidemiology, pathophysiology, clinical features, diagnosis, investigations, and management was searched from the PubMed database.[ncbi.nlm.nih.gov]
  • Home About Us Acknowledgements Feedback Contact Us Site Map High Quality Pathology Images of Benign and Malignant Neoplasms and Related Entities Fibrous Dysplasia Home Orthopedic Tumor-like Lesions of Bone Fibrous Dysplasia Fibrous Dysplasia : Intro & Epidemiology[webpathology.com]
  • Johanna Benhamou, Deborah Gensburger, Claude Messiaen and Roland Chapurlat, Prognostic Factors From an Epidemiologic Evaluation of Fibrous Dysplasia of Bone in a Modern Cohort: The FRANCEDYS Study, Journal of Bone and Mineral Research, 31, 12, (2167-2172[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • This review summarizes the pathophysiology, clinical findings, and treatment of FD, with an emphasis on the craniofacial and oral manifestations of the disease. Published 2016. This article is a U.S.[ncbi.nlm.nih.gov]
  • Literature regarding the epidemiology, pathophysiology, clinical features, diagnosis, investigations, and management was searched from the PubMed database.[ncbi.nlm.nih.gov]
  • Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am. 2005;87:1848-1864. Lietman SA, Ding C, Levine MA.[rarediseases.org]
  • The goal was to better define the natural history of FD encasing the optic nerve and to identify the pathophysiological mechanisms contributing to the development of optic neuropathy.[doi.org]
  • Castro, Andrea B Burke, Howard D Wang, Jeffrey Tsai, Pablo Florenzano, Kristen S Pan, Nisan Bhattacharyya, Alison M Boyce, Rachel I Gafni, Alfredo A Molinolo, Pamela G Robey and Michael T Collins, Activation of RANK/RANKL/OPG Pathway Is Involved in the Pathophysiology[doi.org]

Prevention

  • There is no known way to prevent fibrous dysplasia. Treatment aims to prevent complications, such as recurrent bone fractures, to help make the condition less severe.[nlm.nih.gov]
  • Awareness of the syndrome, particularly when the myxoma is solitary, can prevent misdiagnosis of intramuscular myxomas (especially when large) as malignant mesenchymal tumors containing myxoid tissue.[ncbi.nlm.nih.gov]
  • En bloc resection and bone graft cannot prevent recurrence in skeletally immature patients with monostotic expansile fibrous dysplasia, and cannot alter for the natural history of the disease.[ncbi.nlm.nih.gov]
  • There is no consensus on the benefit and safety of prophylactic optic decompression, yet therapeutic decompression has been shown to prevent vision deterioration.[ncbi.nlm.nih.gov]

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