Fibrous Dysplasia

hospital bed

by Saumik Biswas

In the year 2000, there was a child who fell in a waiting room of a walk-in clinic. In agonizing pain, the little boy screamed for help and his fragile body began to turn pale. Once the boy and the parents were called to a room by the receptionist, the physician did his appropriate diagnosis and concluded that the child suffered a “minor injury” and that it was “nothing to worry about”. With the reassurance of the doctor, the parents felt at ease, but little did they know what the next few hours had in store for them. Once they arrived home, the parents of the boy urgently spotted that he was still in need of great medical assistance and they then rushed him to the hospital. As the boy was still crying in the emergency room, the physician dressed in the bright white coat read his x-ray and discovered something absolutely astounding. The faces of the staff around the emergency department grew with confusion and the first words that came out of the physician’s mouth were, “where is his tibia”? After it was determined that the child had fibrous dysplasia (FD), the little boy was quickly transported to a world-renowned hospital in Toronto for immediate surgery. This “little boy” is my younger brother and he has monostotic FD.

FD is a type of bone disease involving abnormal bone development in which normal bone is replaced with fibrous tissue2. This anomaly develops due to the failure in the remodeling of “primitive bone” to “mature lamellar bone” and a failure of the bone to realign in response to mechanical stress1. Since the bone is unable to mature, masses of immature isolated trabeculae are left behind- trabeculae are small tissue elements that form a network. The trabeculae are also meshed in dysplastic fibrous tissue, and are constantly “turning over” at a slow rate, but never end up completing the remodeling process1.

You might ask yourself, “What causes fibrous dysplasia”? Well, certain theories postulate that FD is linked to a mutation in the gene that encodes the alpha subunit of a stimulatory G protein located on chromosome 20. As a result of this mutation, the amino acids cysteine or histidine in the G protein of osteoblasts is replaced by arginine which causes these cells to produce a fibrous tissue in the bone marrow instead of the proper elements required for normal bone development2.
Now, depending on when the mutational event occurs during embryogenesis, different forms of FD can arise: monostotic (affects a single bone in the body), polyostotic (affects multiple bones), or McCune-Albright syndrome (most severe form)1,3.

Furthermore, in order to treat my brother’s disease, the head orthopedic surgeon at the Hospital for Sick Children performed a procedure known as ‘bone grafting’. To simplify, the surgeon implanted an intramedullary rod (for bone support), bone graft material (served as a scaffold for new bone growth), and osteoprogenitor cells (these cells help with the formation of a new bone by osteogenesis) into his leg1.

At the end of the day, I find it truly extraordinary that the human body can be afflicted with many intricate diseases and yet, medicine has developed such fascinating advancements that can help us combat them. Nevertheless, my family and I are sincerely grateful for the help we received from the various healthcare professionals.

References

1. Dicaprio, M. R., & Enneking, W. F. (2005). FIBROUS DYSPLASIA. Journal Of Bone & Joint Surgery, American Volume, 87(8), 1848-1864. doi:10.2106/JBJS.D.02942. Retrieved from: http://www.ncbi.nlm.nih.gov/pubmed/16085630

2. Guruprasad, Y., & Chauhan, D. (2012). Craniofacial fibrous dysplasia – A review of current management techniques. Chronicles Of Young Scientists, 3(2), 106-110. doi:10.4103/2229-5186.98672. Retrieved from: http://web.ebscohost.com/ehost/pdfviewer/pdfviewer?sid=aeff136d-4204-4208-9765-e44c74dee278%40sessionmgr115&vid=4&hid=107

3. Monini, S., Volpini, L., Lacolucci, C., & Barbara, M. (2012). Temporal Bone Fibrous Dysplasia: A Rare Mastoid Localization. Journal Of International Advanced Otology, 8(2), 321-324. Retrieved from: http://web.ebscohost.com/ehost/pdfviewer/pdfviewer?sid=aeff136d-4204-4208-9765-e44c74dee278%40sessionmgr115&vid=7&hid=107

One Comment
  1. Shahla A. Grewal
    November 4, 2013 | Reply

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