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CASE REPORT Table of Contents  
Ahead of print publication
Advanced polyostotic fibrous dysplasia


1 Department of Biochemistry, Abdul Malek Ukil Medical College, Noakhali, Bangladesh
2 Department of Emergency and Casualty, Cumilla General Hospital, Cumilla, Bangladesh
3 Department of Endocrinology, Mymensingh Medical College Hospital, Mymensingh, Bangladesh
4 Department of Medicine, Sir Salimmullah Medical College and Mitford Hospital, Dhaka, Bangladesh
5 Department of Rheumatology, Mymensingh Medical College Hospital, Mymensingh, Bangladesh

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Date of Submission23-Apr-2022
Date of Decision27-Apr-2022
Date of Acceptance27-Apr-2022
Date of Web Publication27-Jun-2022
 

  Abstract 


Polyostotic fibrous dysplasia is a disorder that features the replacement of multiple areas of bone with fibrous tissue, which may cause fractures and deformity. It begins in childhood and progresses onward, affecting both sexes equally. A 23-year-old male presented with recurrent fractures of all long bones and multiple vertebrae with low trauma. X-ray showed extensive multilocular cystic lesions with ground-glass diffuse refractions throughout all long bones, multiple fracture lines and dislocation of joints, scoliosis, and compression of multiple vertebrae. Severe cortical thinning is also seen in all bones. He was managed with bisphosphonate, and significant improvement was observed.

Keywords: Alphabet soup, fibrous dysplasia, ground glass, polyostotic, rind sign


How to cite this URL:
Iftekhar MH, Khan MR, Nur-A-Musabber ., Biswas H, Azad U, Moshwan MM, Chanda PK, Kamrul-Hasan A B. Advanced polyostotic fibrous dysplasia. Bangladesh J Endocrinol Metab [Epub ahead of print] [cited 2022 Aug 10]. Available from: http://www.bjem.org/preprintarticle.asp?id=348387





  Introduction Top


Fibrous dysplasia (FD), a congenital disorder, arises from sporadic mutation of the α-subunit of the Gs-stimulatory protein. Osseous changes are characterized by the replacement and distortion of normal bone with poorly organized, structurally unsound, and fibrous tissue.[1] The clinical spectrum of this condition is broad, depending on the distribution of genetic mosaicism. Skeletal lesions with abnormal bone structure may present only in one bone (monostotic FD; in 70%–85% of patients) or in multiple sites (polyostotic FD; 15%–30%) and can lead to deformities, fractures, functional impairment, and pain.[2] Here, we report a 23-year-old male with characteristic deformities of polyostotic FD.


  Case Report Top


A 23-year-old male, unemployed, normotensive, nondiabetic, second sibling of nonconsanguineous parents, born at term by normal vaginal delivery at home with average birth weight and mild bowing of lower limbs, presented with unable to walk due to recurrent fractures of all limbs, back, and chest wall bones even with mild trauma along with the arrest of growth since his 3 years of age. He attained puberty at a normal age. He had no history of neonatal convulsion, head trauma, or irradiation. His parents and siblings are apparently normal in growth and development. The height was 97 cm (far below the third centile) on general examination. Musculoskeletal system examination revealed short limbs with gross deformity of the entire skeleton, lumber kyphoscoliosis, and dislocation of different joints of the appendicular skeleton. Bony tenderness was present. Tanner stage was G4 and P4 with a testicular volume of 25 ml bilaterally. Other systems appeared normal. His laboratory investigation reports are summerized in [Table 1]. His clinical appearence is depicted in [Figure 1] and X-ray findings are given in [Figure 2], [Figure 3], and [Figure 4].
Table 1: Summary of laboratory investigations of the patient

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Figure 1: The patient (photograph shared with permission of the patient)

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Figure 2: X-ray of the left upper limb

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Figure 3: X-ray of the right lower limb

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Figure 4: X-ray of the spine anteroposterior view

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We treated our patient with injectable zoledronic acid (5 mg/100 mL) 0.05 mg/kg IV 4 monthly with calcium and Vitamin D supplementation daily. Limb braces were applied to support limbs. After 8 months, he improved clinically with a reduction of pain and improvement in mobility.


  Discussion Top


FD is a noninherited bone disease characterized by abnormal differentiation of osteoblasts leading to the replacement of cancellous bone and bone marrow by immature bone and fibrous stroma. FD arises sporadically, and there are no confirmed cases of vertical transmission. The true incidence of FD is unclear. However, it has been reported that FD represents approximately 5%–7% of benign bone tumors.[3],[4],[5] Morphological changes in FD are related to postzygotic mutations of the α-subunit of the Gs stimulatory protein (GNAS mutations), leading to activation and inappropriate cyclic adenosine monophosphate overproduction. Osteoblasts with this mutation have an increase in proliferation and faulty differentiation leading to the fibrotic bone matrix.[3],[4] The monostotic form never progresses to polyostotic FD, and spontaneous resolution of FD does not occur. FD, when polyostotic, may be associated with McCune–Albright syndrome and Mazabraud's syndrome.[6],[7]

Histopathological features of FD are composed of fibrous tissue interspersed between bone trabeculae. Trabeculae are dysplastic and disorganized. Hematoxylin-eosin stained sections show irregular, discontinuous trabeculae within a fibrous stroma, demonstrating the typical “alphabet soup” pattern.[8]

Typical radiological features of FD lesion appear as an area of radiolucent ground glass matrix, which is usually smooth and homogeneous, not centrally located within medullary bone.[9] Delicate fine trabeculae can be seen within FD lesions. The lesions usually cause cortical thinning due to enlarged fibro-osseous masses within the bone. The periosteal reaction is not usually present unless associated with a pathological fracture. The lesion may undergo expansile remodeling secondary to the enlarging mass of fibro-osseous tissue. A thick layer of sclerotic bone is known as a “rind sign.” CT scans may identify soft-tissue masses and bone destruction and suggest malignant transformation. Lesions usually are enhanced after intravenous contrast administration.[10] Magnetic resonance imaging may be used to define the full extent of the lesion accurately.

Both monostotic and polyostotic lesions affecting long bones such as the tibia, the femur, or the humerus occur in the diaphyses or in the metaphyses.[11] However, epiphyseal involvement occurs in an advanced stage after puberty.[12] In the present case, all the long bones with epiphyseal involvements had diaphyseal or epiphyseal lesions concerning the advancement of FD. Extraskeletal involvement is rare and includes ovarian cyst, thyroid pathology, pituitary adenoma, testicular mass, pancreatic IPMNs, breast carcinoma, soft-tissue myxoma, cushing syndrome, and phosphate wasting.[13]

Treatment of FD for asymptomatic and stable lesions includes monitoring the patient. Surgery is only done for diagnostic biopsy or to correct deformity, nonsurgical treatment failure, prevention of pathological fractures, and eradication of symptomatic patients. In polyostotic form, bisphosphonate therapy may be used for the management, and it leads to an increase in bone density and reduces pain.[4],[14]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Kozlowski K, Beighton P. Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis, 3rd ed. London: Springer; 2012.p. 89-97.  Back to cited text no. 1
    
2.
Robinson C, Collins MT, Boyce AM. Fibrous dysplasia/Mccune-Albright syndrome: Clinical and translational perspectives. Curr Osteoporos Rep 2016;14:178-86.  Back to cited text no. 2
    
3.
Singer FR. Fibrous dysplasia of bone: The bone lesion unmasked. Am J Pathol 1997;151:1511-5.  Back to cited text no. 3
    
4.
Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD. Fibrous dysplasia. J Am Acad Orthop Surg 2004;12:305-13.  Back to cited text no. 4
    
5.
DiCaprio MR, Enneking WF. Fibrous dysplasia. Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am 2005;87:1848-64.  Back to cited text no. 5
    
6.
Snieders MN, van Kemenade FJ, van Royen BJ. Monostotic fibrous dysplasia of a lumbar vertebral body with secondary aneurysmal bone cyst formation: A case report. J Med Case Rep 2009;3:7227.  Back to cited text no. 6
    
7.
Fitzpatrick KA, Taljanovic MS, Speer DP, Graham AR, Jacobson JA, Barnes GR, et al. Imaging findings of fibrous dysplasia with histopathologic and intraoperative correlation. AJR Am J Roentgenol 2004;182:1389-98.  Back to cited text no. 7
    
8.
Kushchayeva YS, Kushchayev SV, Glushko TY, Tella SH, Teytelboym OM, Collins MT, et al. Fibrous dysplasia for radiologists: Beyond ground glass bone matrix. Insights Imaging 2018;9:1035-56.  Back to cited text no. 8
    
9.
Traibi A, El Oueriachi F, El Hammoumi M, Al Bouzidi A, Kabiri el H. Monostotic fibrous dysplasia of the ribs. Interact Cardiovasc Thorac Surg 2012;14:41-3.  Back to cited text no. 9
    
10.
Lee JS, FitzGibbon EJ, Chen YR, Kim HJ, Lustig LR, Akintoye SO, et al. Clinical guidelines for the management of craniofacial fibrous dysplasia. Orphanet J Rare Dis 2012;7 Suppl 1:S2.  Back to cited text no. 10
    
11.
Harris WH, Dudley HR Jr., Barry RJ. The natural history of fibrous dysplasia. An orthopaedic, pathological, and roentgenographic study. J Bone Joint Surg Am 1962;44-A: 207-33.  Back to cited text no. 11
    
12.
Nixon GW, Condon VR. Epiphyseal involvement in polyostotic fibrous dysplasia. A report of two cases. Radiology 1973;106:167-70.  Back to cited text no. 12
    
13.
Collins MT, Singer FR, Eugster E. McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia. Orphanet J Rare Dis 2012;7 Suppl 1:S4.  Back to cited text no. 13
    
14.
DiCaprio MR, Enneking WF. Fibrous dysplasia. Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am 2005;87:1848-64.  Back to cited text no. 14
    

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Correspondence Address:
A B M Kamrul-Hasan,
Department of Endocrinology, Mymensingh Medical College, Mymensingh 2206
Bangladesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/bjem.bjem_1_22



    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]
 
 
    Tables

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