IP Archives of Cytology and Histopathology Research

Print ISSN: 2581-5725

Online ISSN: 2456-9267

CODEN : IACHCL

IP Archives of Cytology and Histopathology Research (ACHR) open access, peer-reviewed quarterly journal publishing since 2016 and is published under the Khyati Education and Research Foundation (KERF), is registered as a non-profit society (under the society registration act, 1860), Government of India with the vision of various accredited vocational courses in healthcare, education, paramedical, yoga, publication, teaching and research activity, with the aim of faster and better dissemination more...


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Patkar, Neelakantan, and Mishra: Fibrocartilaginous dysplasia in distal femur: A rare histopathological finding


Introduction

Fibrous dysplasia (FD) is a crippling skeletal disease which can be polyostotic or monostotic. It is caused by activating mutations of the GNAS gene, which encodes the stimulatory G protein Gαs.1, 2 FD shows irregular immature woven bone formation without osteoblastic rimming and fibrous tissue. Rarely little amounts of cartilage can be seen in FD while in FCD there is cartilage with a relatively high cell density in most of the cases.3 Massive cartilaginous differentiation in FD is called fibrocartilaginous dysplasia (FCD) and is considered a rare variant of FD.3, 4 Lower extremities, especially proximal femur is most commonly affected by FCD leading to disabling deformity of the limb.5, 6 As per literature search, we could find less than 30 cases of FCD in femur in English literature.4 Radiologically the lesion may show variable density ranging from radiolucent to dense, depending on the relative proportions of the fibrous and osseous tissue and cartilaginous tissue.4 On histopathology characteristic shaped (C-shaped) woven bone and bone formation without osteoblastic rimming along with background of fibrous proliferation is seen in FD.3 The fibro-osseous lesions have hyaline cartilage islands in juxtaposition to a fibro-osseous areas and columnar arrangement of cartilage cells resembling a growth plate can be seen.7 The cartilage may show mild to moderate atypia.7 Due presence of above features it is very important to diagnose FCD and differentiate it from multiple enchondromatosis, Ollier disease, chondrosarcoma, and chondrosarcoma secondary to FD.3 The diagnosis should include a multidisciplinary team approach involving clinical, radiological and pathological correlation.

Case Report

A 4-year-old male child presented with swelling around knee joint, difficulty in walking and clinically had varus deformity of knee joint. X-ray showed a well-defined radiolucent lesion on posteromedial aspect of distal end of femur. The lesion was monostotic and was not associated with syndromes or other skeletal defects. Curettage of the lesion was done and fragmented grey white firm to hard tissue bits measuring 4 x 3 x 2 cm were received for histopathological examination. The tissue was processed entirely and slides were stained with H & E. Multiple sections studied from the specimen showed branching and anastomosing irregular trabeculae of woven bone along with cartilage (Figure 1). The bone did not have prominent osteoblastic rimming. The stroma comprised of fibroconnective tissue, spindle cell proliferation with few inflammatory cells and giant cells. Intervening cartilage showed hyperplasia (Figure 2, Figure 3). There was no evidence of clear cells or malignant chondrocytes. There was no evidence of malignancy in the sections studied. Our final diagnosis was Fibrocartilaginous dysplasia of distal end of femur.

Figure 1

a-b (40x) 1c, d (100x): branching and anastomosing irregular trabeculae of woven bone along with cartilage. Stroma show fibrous proliferation and congested blood vessels.

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Figure 2

a, c and d (400x) b (100x): Woven bone along with cartilage hyperplasia.

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Figure 3

(100x): Cartilage hyperplasia.

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Discussion

FCD is a rare skeletal disorder, a variant of FD. Pelzmann et al. reported it first time in 1980 as an FD lesion containing extensive cartilage. 3 A missense mutation in the guanine nucleotide binding protein/α subunit 1 gene on chromosome 20 causes FCD. 8, 9 It is a genetic noninherited condition. The polyostotic variant usually is associated with McCune–Albright syndrome. 8, 9 Our case was monostotic and did not have syndromic association.

According to a review done by Morioka et al this lesion is more common in young males, proximal femur is the most common site and monostotic disease is more common than polyostotic lesions.3 In a study by Choi et al10 the lesions in tibia demonstrated progressive, spontaneous resolution; whereas had slim possibility of spontaneous regression was noted in femoral and humeral lesions. Corrective osteotomy should be when the joint mechanics and alignment is disturbed or the deformity is increasing or persistent.10

On histopathology both cartilage hyperplasia and fibro-osseous lesion are present. In a study by Vargas-Gonzalez the lesion had cartilaginous (60%) and a fibro-osseous (40%) component.11 In their study there was fibrous dysplasia along with increased cartilaginous areas. The cartilage part showed increased cellularity and some chondrocytes displayed moderate areas of endochondral ossification and calcification. Atypia and binucleation was also noted.11 In our study there was no significant atypia in the cartilage.

Histogenesis of this cartilage may be intrinsic to the lesion itself, or may result from disruption of an affected growth plate during childhood or secondary to fracture.8 According to a study by Kishan Prasad HL et al this lesion originated from prolonged columns of the epiphyseal growth plate or these cartilaginous islands arose as developmental rests from epiphyseal cartilage and this cartilage tissue developed simultaneously.8 It is very important distinguish these lesion from chondrosarcoma arising in FD. Treatment by an extensive curettage, bone grafting, and correction of the deformity with an osteotomy and internal fixation should be done in these cases with follow up of the patient.

Conclusion

FCD is a rare bone lesion that needs to be surgically treated early to prevent progressive deformity and risk of pathological fractures. Radiologically the diagnosis can be misleading and thus understanding the histopathological spectrum of the disease is necessary. This lesion requires careful histopathological assessment to rule out malignancies with chondroid appearance. Genetic testing and syndromic association of the disease if present should also be noted.

Conflict of Interest

The authors declare that there are no conflicts of interest in this paper.

Source of Funding

None.

References

1 

S K Khan P S Yadav G Elliott D Z Hu R Xu Y Yang Induced GnasR201H expression from the endogenous Gnas locus causes fibrous dysplasia by up-regulating Wnt/β-catenin signalingProc Natl Acad Sci201711534182710.1073/pnas.1714313114

2 

MH Hakar C Chapman B Hansford JL Davis Polyostotic Fibrous Dysplasia With Extensive Cartilaginous Differentiation: A Rare Case Clinically Mimicking Ollier DiseaseAJSP202121735

3 

H Morioka Y Kamata K Nishimoto M Susa K Kikuta K Horiuchi Fibrous Dysplasia with Massive Cartilaginous Differentiation (Fibrocartilaginous Dysplasia) in the Proximal Femur: A Case Report and Review of the LiteratureCase Rep Oncol201691263310.1159/000443476

4 

S Bakırcıoğlu E T Yılmaz K Kösemehmetoğlu G Yılmaz Excision of fibrous band and application of tension band plating in focal fibrocartilaginous dysplasia: A case report and literature reviewActa Orthop Traumatol Turc20215521848

5 

R Vaishya A Agarwal N Gupta Fibrocartilaginous Dysplasia of the Bone: A Rare Variant of Fibrous DysplasiaCureus201681e44810.7759/cureus.448

6 

B Muezzinoglu F Oztop Fibrocartilaginous dysplasia: a variant of fibrous dysplasiaMalays J Pathol2001231359

7 

T Ishida H D Dorfman Massive chondroid differentiation in fibrous dysplasia of bone (fibrocartilaginous dysplasia)Am J Surg Pathol199317992430

8 

H L Kishan Prasad Fibrocartilaginous dysplasia: A rare but distinct entityMed J DY Patil Univ2017105034

9 

E R Henderson H Monforte J B Neustadt Fibrocartilaginous dysplasia of the proximal part of the femur with a pathological fracture in a child - A case reportJBJS Case Connect2014449010.2106/JBJS.CC.M.00254

10 

IH Choi CJ Kim TJ Cho CY Chung KS Song JK Hwang Focal fibrocartilaginous dysplasia of long bones: report of eight additional cases and literature reviewJ Pediatr Orthop20002044217

11 

R Vargas-Gonzalez S Sanchez-Sosa Fibrocartilaginous dysplasia (fibrous dysplasia with extensive cartilaginous differentiation)Pathol Oncol Res2006122111410.1007/BF02893455



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Article type

Case Report


Article page

222-224


Authors Details

Rakesh Rajiv Patkar, Amrita Neelakantan, Shilpa Mishra


Article History

Received : 16-07-2021

Accepted : 01-09-2021

Available online : 17-09-2021


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