Perspectives in Medical Research

Volume: 12 Issue: 2

  • Open Access
  • Case Report

A Case of Hereditary Multiple Exostoses: Role of FNAC in diagnosis

Qury Sabita Mahapatra1 , Annu Nanda2∗ , Shalini Trivedi3

1Associate Professor, Department of Pathology, ESIC Dental College & Hospital, New Delhi, India
2Professor and Head, Department of Pathology, ESIC Dental College & Hospital, New Delhi, India
3 Senior Specialist and Head, Department of Pathology, ESIC Hospital, New Delhi

*Corresponding Author: Annu Nanda, Professor and Head, Department of Pathology, ESIC Dental College & Hospital, New Delhi, India E-MAIL: [email protected]

Year: 2024, Page: 79-81, Doi: https://doi.org/10.47799/pimr.1202.15

Received: Dec. 12, 2023 Accepted: June 22, 2024 Published: Aug. 21, 2024

Abstract

Hereditary Multiple Exostoses (HME) is a rare autosomal dominant bone disease. It is characterized with numerous benign osteochondromas, which grow outward from the metaphyses of long bones. In many cases it is asymptomatic but can lead to considerable number of complications, like pressure symptoms, limb deformities, and can cause psychosocial problems. Malignant transformation is rarely seen. Surgery is the main modality of treatment.This paper aims to highlight the role of FNAC in diagnosis of HME.

Keywords: Hereditary Multiple Exostoses, FNAC, Complications

References

  1. Hennekam, R C . 1991. Hereditary multiple exostoses. J Med Genet 28(4):262–268.

  2. Tepelenis, K, Papathanakos, G & Kitsouli, A . 2021. Osteochondromas: An updated review of epidemiology, pathogenesis, clinical presentation, radiological features and treatment options. In Vivo 35(2):8045119.

  3. Garg, B K, Shinde, O R, Sonawane, D V & Jadhav, K B . 2019. Hereditary multiple exostoses: A rare case report. JMSCR 7(6):749–55.

  4. Wuyts, Wim, Schmale, George A. & Chansky, Harold A. . 2000. Hereditary Multiple Osteochondromas. In: Adam, MP, Feldman, J & Mirzaa, GM , eds. GeneReviews® [Internet], [Updated 2020 Aug 6]. Seattle (WA): University of Washington

  5. Garcia, R A, Inwards, C Y & Unni, K K . 2011. Benign bone tumors: recent developments. Semin Diagn Pathol 28(1):73–85.

  6. Bovée, J V . 2008. Multiple osteochondromas. Orphanet J Rare Dis 3:3.

  7. Jayshree, K & Jayalaxmi . 2017. Utility of FNAC in the Diagnosis of Bone Tumors. Indian J Pathol Res Pract 6(2):271–278.

  8. Chhabra, S, Chopra, R, Handa, U, Punia, R S & Mohan, H . 2010. Cytomorphologic features of chondroid neoplasms: a comparative study. Acta Cytol 54(6):1101–1111.

  9. Kok, H K, Fitzgerald, L & Campbell, N . 2013. Multimodality imaging features of hereditary multiple exostoses. Br J Radiol 86.

  10. Wahane, R N, Lele, V R & Bobhate, S K . 2007. Fine needle aspiration cytology of bone tumours. Acta Cytol 51:711–731.

Cite this article

QSM, Nanda A, Trivedi S. A Case of Hereditary MulƟple Exostoses: Role of FNAC in diagnosis. Perspectives in Medical Research. 2024;12(2):79-81 DOI: 10.47799/pimr.1202.15

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