A rare syndromic association

December 13, 2018 0 By FM

A 19-year old male from Jharkhand presented with a 10-year history of left sided swelling on the face. It was insidious in its onset, with a rapid increase in size during last three years. He had difficulties in breathing as well as taking his diet orally. The swelling had pushed his eyes outwards and upwards causing visual problems. He could only perceive light with his left eye. Clinical examination showed 15×15 cm swelling on the left side of face, (Figure 1) extending from the supraorbital ridge to the angle of the mandible. The swelling was distorting the external osseocartilaginous framework of the nose. Ala of the right nostril was preserved. There was also a separate swelling on the right nasolabial region. Intraoral examination showed a bulge on the right side, distorting the maxillary alveolar ridge. Imaging with a CT scan showed a fibro-osseous lesion with a ‘soap-bubble’ appearance. A three-dimensional reconstruction was also done to aid in planning. Biopsy was suggestive of a fibro-osseous pathology.

Challenges in resection: The challenges were to remove the tumour completely with the preservation of normal structures. The preservation of the distorted eye anatomically and functionally was a major issue. Preserving the oral aperture with the intact musculature was also important. The skin was expanded by the tumour and hence could be preserved if not involved by the tumour.

Challenges in reconstruction: The principle was to mirror the normal side and to follow the anatomical landmarks for fixation. All the bones were grossly expanded, preventing fixation. Hence there was no anatomical reference point. A computer-based planning was done on the three-dimensional images. The tumour was subtracted digitally and the remnant bones on right were mirrored to the left. Plates were prebent as a frame to which free fibula bone flap was to be contoured and placed (Figure 2).

Surgical procedure: The tumour was resected completely through an incision placed on the swelling. Much of the skin, the left oral commissure and the left eye could be preserved structurally. A left total maxillectomy and right partial maxillectomy was done. The defect was mainly left maxillary and total hard palate. There was also a loss of dorsal nasal support. A free fibula osteocutaneous flap was taken from the left leg of the patient. Three osteotomies were done to make four bone segments. Contouring was done on the prebent plate. Three segments were used to reconstruct the upper jaw; the last segment was placed vertically for malar eminence and orbital support. Fixation was done with plate and screws. The nasal deformity was corrected with dorsal augmentation from the remaining free fibula graft. Another piece was also used as a columellar strut. The flap was anastomosed to the facial artery and vein. The surgery lasted for about 14 hours.
A week later, the pathology was reported as juvenile ossifying fibroma, psammomatoid type. Juvenile ossifying fibroma can be rarely associated with hyperparathyroidism. The patient was seen by an endocrinologist. Investigations for hyperparathyroid related syndromes were done. Serum Calcium (14.6 mg/dl) and parathyroid hormone (426 ng/L) were elevated. A Technitium Sestamibi scan showed increased uptake in the left inferior parathyroid. Ultrasonogram of the abdomen showed hamartoma of both kidneys. Left inferior parathyroidectomy was done as a second surgery. The PTH level dropped
to 92 ng/L intraoperatively. The post-operative serum calcium was 8.5 mg//dl). The patient recovered well from the surgeries and was discharged. The visual acuity in the left eye remained the same. He may also require some additional corrective cosmetic procedures for the left eye later (Figure 3, 4).
Hyperparathyroidism jaw tumour syndrome is a rare entity. It is inherited as an autosomal dominant pattern with incomplete penetrance. The syndromic associations are parathyroid adenomas, ossifying fibroma of the jaw, renal lesions, polycystic kidney disease, hamartomas and Wilm’s tumour. Absolute treatment is the removal of the jaw tumour and the offending parathyroid adenoma.
It is important to look for the association of hyperparathyroidism in juvenile ossifying fibroma of the jaw. Treatment is complete only if parathyroidectomy is done. There is a 24% chance of the adenoma to turn malignant. The case demonstrated the importance of meticulous multidisciplinary planning and successful execution. Head and neck surgeons, plastic surgeons, craniomaxillofacial surgeons, radiologists, nuclear medicine specialists, ophthalmologists and pathologists were involved. The nursing and technical staff also helped immensely.