Hereditary Multiple Osteochondroma with Incomplete Penetrance in a Lebanese Family: A Case Report

Authors

  • Mohammad K. Moussa, MD Orthopedic Surgery Department, Lebanese University Faculty of Medical Sciences, Beirut, Lebanon
  • Ali Alayane, MD Orthopedic Surgery Department, Lebanese University Faculty of Medical Sciences, Beirut, Lebanon
  • Ryan Bou Raad, MD Orthopedic Surgery Department, Lebanese University Faculty of Medical Sciences, Beirut, Lebanon
  • Ahmad Ghabcha, MD Orthopedic Surgery Department, Lebanese University Faculty of Medical Sciences, Beirut, Lebanon
  • Zaynab Khalaf, MD Endocrinology Department, Lebanese University Faculty of Medical Sciences, Beirut, Lebanon
  • Hussein Zreik, MD Orthopedic Surgery Department, Al Zahraa University Medical Center, Beirut, Lebanon
  • Youssef Zaarour, MD Orthopedic Surgery Department, Al Zahraa University Medical Center, Beirut, Lebanon
  • Oussama Mansour, MD Orthopedic Surgery Department, Al Zahraa University Medical Center, Beirut, Lebanon

DOI:

https://doi.org/10.38179/ijcr.v2i1.33

Keywords:

Hereditary multiple osteochondroma, Bone tumor, Genetic disease, Multiple exostosis, Case report

Abstract

Background: Hereditary multiple osteochondroma (HMO) is a rare autosomal dominant disease with high penetrance reaching 95 to 100%. It manifests during childhood in most of the times. The spectrum of the disease is wide. It is classified into 2 types depending on the number of cases and the penetrance in the same generation. The most feared complication of this disease is the malignant transformation. Establishing a screening protocol requires the identification of the true prevalence and penetrance of the disease.

Case Report: A 17-year-old girl presented with multiple painful lesions in the lower extremities. Physical examination of the patient and her siblings allowed the diagnosis of HMO with incomplete penetrance, and the construction of a pedigree of the family. Surgical treatment was sufficient to control the patient’s symptoms.

Conclusion: Being the first case in Lebanon, this report adds more awareness about this rare disease. By increasing awareness, this report can have an impact on the transmission and the number of affected cases in the country. Furthermore, these data, when added to the available evidence worldwide, can be used in the determination of true penetrance of the disease, and the creation of accurate classification and screening protocol.

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intraoperative photographs of the lesion of the left proximal tibia

Published

2021-07-21

How to Cite

Moussa, M. K., Alayane, A., Bou Raad, R., Ghabcha, A., Khalaf, Z., Zreik, H., Zaarour, Y., & Mansour, O. (2021). Hereditary Multiple Osteochondroma with Incomplete Penetrance in a Lebanese Family: A Case Report. International Journal of Clinical Research, 2(1), 51-56. https://doi.org/10.38179/ijcr.v2i1.33

Issue

Vol. 2 No. 1 (2021): Volume 2, Issue 1

Section

Articles

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