Patient diagnosed with fibrous dysplasia through genetic testing
The patient is a 26-year-old man from New Delhi in India. He had been fine up until age 12 when he started developing right sided facial asymmetry. This had progressively gotten worse with gross deformity of the face. His parents had taken him to a leading facial plastic surgeon.
Extensive testing had been performed on the patient. Genetic testing had been ordered with results positive for fibrous dysplasia with associated neurofibroma. Implications of the diagnosis had been explained to his parents in detail. It was explained that the only treatment was surgical management.
Symptomatology and implications of fibrous dysplasia
Fibrous dysplasia is a rare genetic disorder. It is abnormal growth of fibrous tissue that replaces normal bone tissue. This results in asymmetrical enlargement of the affected region, which leads to gross deformity. This condition needs facial plastic surgery for reestablishment of esthetics.
There can be spontaneous remission of the condition. Fibrous dysplasia of the face leads to gross disfigurement. Surgical intervention is the only available treatment for management of fibrous dysplasia. Constant medical surveillance is advised in order to ensure that it does not affect any vital functions.
Patient undergoes surgical intervention of his condition
The patient has undergone two surgeries thus far for treatment of his condition. Both surgeries had been performed in New Delhi. Unfortunately, the results had been catastrophic for the patient. It had led to a dramatic decrease in the quality of his life.
Incisions had been poorly designed in the first surgery. This had lead to unsightly scar formation. Excess fibrous tissue had been poorly contoured leading to worsening of his facial asymmetry. The patient had undergone a second surgery a few years later, which did not lead to any significant improvement.
The patient has been depressed for a few years now over his condition. Seeing this, his parents had made enquiries about the best facial cosmetic surgeon in India. They had finally decided to come to our hospital for surgical management of his condition. Board certified plastic surgeons also perform this surgery in the European countries.
Initial examination at our hospital along with treatment planning
Dr SM Balaji, facial deformity surgeon, examined the patient and ordered for radiological studies including a 3D CT scan. This revealed overgrowth of fibrous tissue that had replaced bone on the right side of the facial skeleton. The patient had extreme facial asymmetry because of this. This was diagnosed as neurofibroma with fibrous dysplasia.
The surgical procedure was explained to the patient and his parents in detail. They were in agreement with the treatment plan and consented to undergo surgery for facial asymmetry correction.
Successful surgical removal of excess tissue for improving esthetics
The patient was administered anesthesia through bronchoscopic intubation. A nasolabial incision was then made to expose the fibrous tissue. Excess tissue was removed using a mallet and burr through the stamp cut technique. Once adequate reduction had been obtained, the incision was closed with sutures.
Attention was next turned to the right lower border of the mandible. An incision was made through a preexisting scar from a previous surgery. The lower border of the mandible was trimmed until it was symmetrical with the left side of the mandible.
The incision was closed in layers once adequate reduction had been obtained. The patient and his parents were very happy with the results of the surgery. They stated that the patient was very happy with the facial form after surgery. They expressed their total satisfaction before final discharge from the hospital.
Patient with progressive development of left lower facial deformity
The patient is a 17-year-old female from Mathura in Uttar Pradesh, India. She had been fine up until four years ago enjoying perfectly good health. It was around that time that a slight asymmetry began to develop in her left lower face.
This slowly began manifesting as sagging tissue in that region. It progressively worsened and her appearance became altered. Her family stated that she began to lock herself up in her room and refused to come outside.
This caused a great deal of distress for her parents. They took her to a neighbouring state for consultation with a doctor. She underwent testing, which revealed her to have plexiform neurofibroma. The condition was discussed in detail with her family members and they were advised surgical correction. Surgery was subsequently performed on her neurofibroma.
The patient and her parents were not happy with the results of the surgery. This caused the patient to become depressed about her situation. Her parents too were dismayed at the results of the surgery. This made them conduct enquiries regarding the best hospital for surgical correction of this condition. They were informed that our hospital was the best in cosmetic facial surgery in India.
Types of neurofibroma and their manifestations
Neurofibromatosis is the condition where there is tumorous growth in the nervous system. This can be differentiated into three types, namely neurofibromatosis type I, neurofibromatosis type II and schwannomatosis.
The first variant manifests as light brown spots on the skin. There are also freckles in the armpit and groin, small bumps within the nerves and scoliosis. Type 2 involves hearing loss, cataracts at a young age, balance problems, flesh-colored skin flaps and muscle wasting. The tumors generally do not change into cancerous tumours.
Plexiform neurofibromas are larger, more extensive tumors that grow from nerves anywhere in the body. Unlike cutaneous neurofibromas, plexiform neurofibromas are often found in young children. They can even be present at the time of birth.
The cause is a genetic mutation that occurs in certain genes. These can be inherited from a person’s parents or can occur spontaneously during early development. These tumors involve supporting cells in the nervous system rather than the neurons.
There is no known prevention or cure. Surgical removal is the only remedy for these tumors when they begin causing problems or become cancerous. Tumor suppressants are not effective in treating this condition. Reconstructive surgery offers adequate cosmetic results for these patients.
Initial presentation at our hospital for neurofibromatosis treatment
Dr SM Balaji, neurofibroma correction specialist, examined the patient and obtained a detailed oral history. He then ordered 3D CT scan and other radiological studies for the patient. Clinical examination revealed that her left lower face was sagging downwards. There were Café au Lait spots all over her body. The left ear lobule was also involved by the growth.
Presurgical counseling was provided to the patient and her parents. It was explained that the excess tissue had to be surgically excised through a submandibular approach. Extreme care would be taken while planning surgery to ensure that there was no facial disfigurement caused by the surgery.
Successful correction of facial disfigurement following surgery
Under general anesthesia, an incision was made in the submandibular region overlying the growth. Excess neurofibromatous tissue was excised and the incision was closed with sutures.
Outcome of the surgery:
The patient and her family were very happy with the outcome of the surgery. They expressed their thankfulness before final discharge from the hospital.
Gradual development of facial deformity since young
The patient is a 19-year-old boy from Karaikudi in Tamil Nadu, India. His parents first noticed the development of a facial deformity when he was around 4-5 years old. This had slowly progressed to the point where there was gross deformity of the right side of his face. He had slowly lost confidence with the passage of time and became depressed because of this.
They had presented to a local surgeon when he was 14 years of age. A detailed history was obtained from the patient and he was subsequently diagnosed with neurofibromatosis of the right side of the face with a sagging lip.
Difficulties arising from the long standing neurofibromatosis
The excessive growth has caused a great deal of hardship for the patient, resulting in difficulty with eating and speech. The patient had already lost his right eye sight due to this condition.
Having confirmed the diagnosis of neurofibromatosis, the surgeon had advised to remove the excessive tissue surgically. The patient and his parents had consented to surgery and the patient underwent surgery.
However, the overgrowth recurred shortly and worsened considerably over the years. It has now reached the point where it has become a hindrance to the patient’s activities of daily living. They then made extensive inquiries regarding the best hospital to address this problem and had been referred to us.
Patient and his parents presented at our hospital
Dr SM Balaji, neurofibroma surgeon examined the patient and ordered for imaging studies including a 3D CT scan. Examination revealed that tumor grown was extensive and had caused the right side of his face to sag downwards.
The right lateral border of the lip was also sagging downwards. His eye was also infected and appeared larger in size. There were also numerous Café au lait spots seen all over the patient’s body. The patient manifested all the signs and symptoms of neurofibromatosis.
Premier treatment center for facial deformity surgery
Our hospital is a premier center for facial deformity surgery in India. Both soft tissue deformities and bony deformities are addressed at our hospital. Many patients with debilitating facial deformities have undergone surgery at our hospital, helping them to lead relatively normal lives.
Dr SM Balaji has extensive experience of over 25 years as a cosmetic surgeon and this facet has immensely helped to rehabilitate patients with gross facial deformities. Many patients have had their lives restored to complete normalcy after undergoing cosmetic facial surgery at our hospital.
Etiology and pathogenesis of neurofibromatosis
The patient has been diagnosed with plexiform neurofibromatosis. This condition causes tumors to develop in the nervous system. It can be subdivided into neurofibromatosis type I (NF1), neurofibromatosis type II (NF2) and schwannomatosis.
The first is manifested as light brown spots on the skin along with freckles in the armpit and groin. There are also small bumps within the nerves and scoliosis. Second is manifested by hearing loss, cataracts at a young age and balance problems. There are also flesh-colored skin flaps and muscle wasting.
Plexiform neurofibroma are larger, more extensive tumors that grow from nerves anywhere in the body. Unlike cutaneous neurofibroma, plexiform neurofibroma are often found in young children. They can even manifest around the time of birth.
This condition is caused by a genetic mutation in certain genes. They can be inherited from parents or can develop spontaneously during early development. The tumors affect the supporting cells of the nervous system and not the neurons.
It is very rare that cancerous tumors arise from this condition and only an extremely small percentage of the general population is afflicted by this condition.
There is no known prevention or cure. Surgery may be done to remove tumors that are causing esthetic problems or have turned cancerous.
Treatment planning explained to patient and parents in detail
The surgical procedure was explained in detail to the patient and his parents. It was explained that the overgrowth of his plexiform neurofibroma would be excised. Excision was planned very carefully keeping in mind not to cause permanent facial disfigurement. The patient and his parents gave their consent for the surgery.
Surgical excision of neurofibromatosis growth
An elliptical incision was made on the right side of the face and excess neurofibroma tissue was excised. A Weir excision was also done on the right nostril to create symmetry of the nose. Lip level was also adjusted and all incisions were closed with non resorbable sutures.
Successful surgical outcome of the surgery
The patient and his parents expressed their happiness to Dr SM Balaji. An immediate result of the surgery was the improved ability to eat and easier speech. His facial profile was also greatly improved and they were happy with the outcome of the surgery.
Neurofibroma explained to be an inherited disorder
Neurofibroma is a benign tumor of the nerve sheath. It arises from the peripheral nervous system. An inherited disorder, is very disfiguring and adds bulk to the affected tissues. It always results in asymmetry of the affected region.
Young man with neurofibroma presents for surgery
This is a young man from Thalassery. He has had this debilitating condition since childhood. His face is only affected on the right side. The right eye had also become blinded by this condition. He has undergone previous surgery elsewhere in the past for the tissue overgrowth. He has become reclusive and withdrawn because of this. The growth has recurred again to the point it interfere with his activities of daily living. His family conducted extensive enquiries with medical professionals for the best cosmetic surgeon. These enquiries led them straight to our hospital for management of his disfigurement. He will need another surgery to correct his lower lip disfigurement.
The patient examined and treatment plan explained
Dr SM Balaji examined the patient and explained the treatment plan. The patient was in agreement with this.
Surgery is done with removal of overgrowth of excess fibrous tissue
Under general anesthesia, excess neurofibromatous tissue was first retracted and then excised. The proliferation of this tissue in the lobule of his right external ear was also trimmed. This resulted in the improvement of the patient’s facial contour. After removal of adequate tissue, the incisions were then closed with sutures.
The patient expressed satisfaction in the improvement of quality of life before discharge.
A neurofibroma is a benign nerve sheath tumour of the peripheral nervous system. This is an inherited disorder of the nervous system. It adds to the bulk of the tissues and can be very disfiguring and distressing to the patient. This causes facial asymmetry.
Patient with neurofibroma presents for bulk reduction surgery
The patient here is a young man who developed this condition from birth. This had led to extensive right sided facial disfigurement of the patient. He had undergone surgeries elsewhere, which left behind residual scars. The disfigurement had reached a level where it was beginning to affect the patient’s day to day life. His parents conducted extensive Internet research for the best facial reconstruction surgeon. Their search had led them straight to our hospital.
Treatment plan explained to the patient
Prof SM Balaji examined the patient and ordered imaging studies. Studies revealed that the patient also needed reduction of the lateral orbital rim. It also revealed that the patient needed reduction of his chin and the maxillary bone. The patient also had ectropion of the left eye. Correction of the ectropion would be through lateral tarsorrhaphy. The patient and his parents agreed to the treatment plan.
Asymmetry of ears corrected with removal of excess tissue
Under general anesthesia, markings were first made on the excess ear tissue. Excision of the excess tissue would lead to symmetry of the patient’s ears. The excess tissue was first removed and the wounds were then closed with sutures.
Maxillary bulk reduction with mandibular chin reduction
Attention was then directed to the chin reduction procedure. The chin was next approached through a labial sulcus incision of the mandible. Dissection was then carried down to the chin. An osteotomy was then done at the lower border of the chin. The bone was next shaped and screwed back on the mandible. Incision was then closed with sutures. Maxillary vestibular incision was next done to access the hypertrophic right maxilla. Neurofibromatosis tissue was then excised and removed. The maxilla was then reduced until it was symmetrical with the left side. The incision was then closed with sutures.
Ectropion correction with lateral tarsorrhaphy
An incision was next made over the right eyebrow in the temporal region. Bulk reduction was then done with excision of excess tissue. The incision was then sutured. Attention was next turned to the ectropion correction. Markings were first made in the supraorbital region. This was then followed by excision of the excess tissue. The tissue was then sutured close. An incision was next made extending distal from the lateral canthus of the eye. A temporalis flap was then raised. Dissection was then carried down to the lateral orbital rim margin. The bone was then trimmed with a bur. Holes were then made in the bone for the sutures to pass for lateral tarsorrhaphy. This was to correct the patient’s ectropion. The sutures were then passed through the holes and tightened for ectropion correction. Excess tissues were then trimmed and incisions closed with sutures.
The patient tolerated the procedure well and recovered from general anesthesia.
