Four years ago, at the age of 15, Rifat Iqbal developed pain and a large swelling on his left leg. He underwent surgery in Bangladesh to clear the lesion seen on X-ray and MRI. Following the surgery in Bangladesh, he was able to walk around with a limp. He, however, developed swelling of the lower leg and an active discharge from the wound. Infection was suspected and he underwent another surgery to clear the infection. He was treated with regular antibiotics and dressings. However, the discharge persisted and started developing into a swelling at the operated site. He had a further course of antibiotics and regular dressing. The swelling and the active ooze was increasing continuously. He came to India and went to several specialized hospitals across the country in the hope of finding a permanent solution to his condition. Based on imaging and biopsy results, doctors were unable to come up with a specific diagnosis. They proposed that he may have spindle cell carcinoma and recommended amputating the leg. In October 2017, he finally came to Apollo Hospitals, Chennai, and consulted with Dr Kornad P Kosygan, a senior consultant orthopedics surgeon. Upon examination of Rifat’s leg, Dr Kosygan did not find the appearance of the tumour to be malignant. Dr Kosygan reminisces, “I did not immediately suggest amputation, but wanted to excise the tumour and have a definitive diagnosis, aiming for a limb salvage procedure. I would feel bad if we amputated and if the tumour was found to be nonmalignant by histopathology. However, at that stage, Rifat said he was not prepared for any surgery or tests and left for Bangladesh”.
In 2018 February, after visiting several other hospitals, Rifat returned to Dr Kosygan with an even larger swelling which had turned necrotic. According to Dr Kosygan, “The swelling was black in color and emitted a foul odour which even Rifat was unable to tolerate. He came to me saying please amputate my leg.” Dr Kosygan discussed this case with other colleagues and experts in the UK, but was still not convinced that the tumour was malignant. He strongly felt that if the tumour was malignant, it was highly unlikely that Rifat would still be otherwise healthy. The latest scans indicated that the ankle bone was virtually absent, though he was able to walk with a limp. The color of the foot was normal and he was also able to move the ankle and toes and showed no neurological deficit. Also, there was no evidence of any metastatic lesion elsewhere. Dr Kosygan again offered the same treatment option to Rifat.
A team of doctors including Dr Kosygan, and Dr Kannan Prema, consultant plastic and regenerative surgeon, performed an exhaustive and complex wide surgical resection that took four hours to remove a tumour that was twice the size of a cricket ball and pack the area with a collagen-based dressing.
Histopathological examination of the excised tumour was done by Dr Ashok Parameswaran, a senior pathologist and he reported that the swelling was a desmoplastic fibroma, a rare, well-differentiated, fibrous and locally aggressive bone-eating tumour. Desmoplastic fibroma typically occurs in children and young adults. The incidence rate of desmoplastic fibroma is 0.06% among all bone tumours, usually affecting the craniofacial bones with the mandible being the most frequently affected, and long bones such as femur and tibia being somewhat less frequently affected. Patients with desmoplastic fibroma most often present with pain and swelling in the affected region. Once diagnosed, the tumour must be removed via a wide surgical resection to reduce the chances of recurrence.
In Rifat’s case, the tumuor had grown considerably and had destroyed the ankle bone to such an extent that the bone was not even visible in the X-ray. The challenge was to preserve as much of the normal bone as possible without leaving behind any tumour cells. After surgery, to aid the regrowth of the bone, the medical team also decided to utilise the regeneration potential of the normal bone cells. Rifat was given human recombinant parathyroid hormone which is known to help bone-forming at low doses (25 µg/day) and is often given to elderly patients for treating osteoporosis. Chemotherapy was not given as the tumour was not found to be malignant and radiotherapy was not done with the aim of avoiding the destruction of the existing normal bone cells as the medical team had opted for a regeneration approach.
About a week after surgery, Rifat was discharged. He was prescribed a daily dose of the self-injectable human recombinant parathyroid hormone. He had a teleconsultation 4 months later when he ran out of his medications. He was doing well, and the doctors recommended that he continue the same treatment. Rifat came walking for review at his 6 months follow-up and was very happy that the wound had almost completely healed, and he was able to walk more comfortably. X-rays revealed no further bone destruction and even indicated that 10-15% of the bone was reforming. Rifat was still limping slightly, but able to ride a bicycle without any difficulty. According to Dr Kosygan, “There are chances of tumour recurrence. Literature reports about 15-48% recurrence over a period of 10-15 years.”
Only time can tell what will happen to Rifat. However, as of today, Rifat is walking and pursuing a BBA degree. For success in cases like this one, Dr Kosygan says it is important to establish appropriate tissue diagnosis as appearances can be misleading, and a multidisciplinary approach and newer options for therapy should also be considered.