Introduction

The face can be the mirror of the soul for the majority of us, but what about those who cannot express themselves freely due to partial paralysis of the facial muscles? Such is the quandary of persons suffering from the Parry Romberg syndrome.

The Parry Romberg Syndrome is also termed as hemifacial atrophy and is characterised by progressive wasting of the fat, muscles and cartilage of one half of the face. It occurs sporadically in families and may be even absent in the family tree in some cases. 

It was first described by Romberg in 1846.

• Epidemiology:

There is a probable incidence of 0.3 -2.5 cases per 100000 population per year.¹

It is three times more prevalent in women than in men.¹ The syndrome manifests at  2 years of age and can progress to 20 years of age. It is usually diagnosed at the age of 13.

• Etiology 

A series of events that cause increased and unregulated activity of the sympathetic nervous system, which in turn causes localised atrophy of the sensory trunks of the trigeminal nerve, can lead to hemifacial atrophy.

Localised trauma during the growth of an infant or child can lead to localised disturbances in the blood circulation, which hampers growth.

Heredity can be a factor, though it is seen to have skipped a generation or two sometimes.

It is an autoimmune disorder which can be seen in conjunction with other autoimmune conditions like scleroderma, vitiligo, etc.

There is a presence of inflammation in the blood vessels associated with the nerves (termed neurovasculitis), and there are malformations of the blood vessels in the brain.

Viral infections like herpes zoster, herpes simplex, etc, can also contribute to this condition.

Clinical presentation in parry-romberg syndrome

Initial patient physical examination and history reveal that the disparity of the growth of the face typically starts at 2-3 years of age and then occurs sporadically up to 25 years of age.

Facial examination

• Coup de sabre is the identifying feature of Parry Romberg Syndrome, wherein there is a scar tissue line demarcating the normal side from the affected side
• It usually starts from the forehead and extends up to the chin
• The muscles on the affected side look atrophied, the skin looks stretched and dehydrated and sometimes wrinkled.
• The eye is sunken on the affected side
• Speech and hearing are normal
• The ear can be smaller on the affected side
• There can be hyperpigmented lesions or port nevi stains on the affected side
• The smile is lopsided
• Both the jaws and zygomatic arches seem sunken on the affected side
• There may be sparse hair or eyebrows on the affected side

Eye examination

• The involvement of the ocular muscles may lead to eyelid atrophy or pseudo-apoptosis
• There are changes in the uvea and inflammation of the same
• Enophthalmos is a consistent finding in these patients due to loss of fat and bone around the musculature of the eye

Intraoral examination

• Intraoral examination shows collapsed arches on the affected side
• There may be teeth missing on the affected side
• There could be overcrowding of the teeth on the affected side due to less space for eruption
• The present teeth may be hypoplastic and have closed apices even though they have not erupted
• The midline of the teeth is usually shifted
• The tongue may or may not be involved in Parry Romberg Syndrome

Aspects to be considered in rehabilitation:

Pain management

Trigeminal neuralgia and facial pain need to be addressed through NSAIDs. Severe and recurrent migraines can be managed by progablin and topiramate. ²

Appearance enhancement

The severe disfigurement of the face due to mismatched growth can take a toll on the patient’s self-confidence and inhibit social interactions to a great extent. This prevents them from having a normal social life. 

Enhancing the patient’s facial features can reduce the inhibition considerably and help them to lead normal lives.

Psychosocial aspect

Apart from the facial appearance, counselling is equally important for the patients of Parry Romberg Syndrome and their immediate family. It gives the patient the necessary tools to navigate through life and have good self-esteem. 

Traditional reconstructive procedures

Autologous fat grafting^4,5,6

Autologous fat grafting is a minimally invasive procedure with very satisfactory results wherein fat from the patient is injected in the facial regions to reconstruct the atrophied muscles. The fat is usually harvested from the abdomen or the skin on the inner part of the knees or inner thighs.

Apart from giving the face a good lift and restoring symmetry satisfactorily, it also improves the quality of the skin around the graft.

The asymmetry is usually overcorrected so that it can compensate for the fat that may be reabsorbed by the body after 6 months.

Some complications include skin irregularity due to uneven reabsorption of fat.

Autologous fat grafting can bring about a drastic change in a patient’s appearance, thus contributing to their psychological well-being. 

Local and regional flaps

Free grafts from the face and neck or from other parts of the body can be used for the reconstruction of facial deformity. Full-thickness muscle grafts can be used for the more extensive defects.

Bone grafts and orthognathic surgery

Costal cartilage grafts can be used to reconstruct the deformity in the forehead through the minimally invasive subperiosteal tunnel.⁶

Recent advances in reconstructive surgery

Microvascular free tissue transfer

Microvascular free tissue grafts enable the rehabilitation of complex deformities, like in the case of Parry Romberg Syndrome or in the case of extensive malignant tissue excavation. Microvascular grafts are usually compound grafts containing skin, fat and bone or cartilage so that the deformity can be closed with a single graft. A skin graft may be required separately to cover the area.¹⁰

Adipose-derived stem cell (ADSC) enriched fat grafting

Stem cells are the primordial cells which can further differentiate into other types of tissue cells based on the needs of the body. The maximum concentration of these cells is in the umbilical cord blood at gestation, bone marrow and adipose tissue. Adipose-derived stem cells are easy to obtain, minimally invasive and can be used to reconstruct soft tissue in the defects caused by Parry Romberg Syndrome.⁹

3D printing and computer assisted surgery(Alloplastic implants)

A customised titanium implant can be made for patients who need extensive grafting. A custom implant reduces the need for invasive procedures and gives outstanding and predictable outcomes.⁸

Distraction osteogenesis

Distraction osteogenesis uses the principle of bone formation, wherein whenever there is a break in the continuity of bone, the connective tissue around the break will form new connective tissue and bone, thus lengthening the bone. This principle has been used extensively in reconstructing deficient mandibles and zygomatic processes, as in the Parry Romberg Syndrome. ¹¹

The main advantages of this procedure are that it provides long-term stability as the bone is lengthening and growing gradually, and merging with the existing bone. No other invasive procedures for grafts are required. 

Adjunctive and supportive techniques

Fat banking/cryopreservation

Freezing of adipose tissue for the stem cells is still being studied to find more viable methods of cryopreservation.¹³

Orthodontics and prosthodontics for occlusal rehabilitation

Orthodontics can align the crooked and unerupted teeth and give them a new direction and location in the bone. The maxillary arch can be expanded through distraction osteogenesis. This, followed by a prosthesis consisting of dental implants or dentures, can replace the missing teeth, giving the patients a confident new smile. 

Combined with adipose grafts or custom titanium implants, the face can be reconstructed beautifully.

Challenges

The time taken for each step and the multiple interventions can discourage the patient from completing their treatment, leaving it halfway.

There may be repetitive treatments required according to the recurrence of symptoms or due to the growth of the body in an adolescent.

Future directions

Medicine and AI can combine to give accurate, lasting and pleasing solutions acceptable to both the patient and the physician.

Conclusion

Parry Romberg Syndrome poses significant challenges for the patient as well as the physician. Early diagnosis and intervention, along with staunch moral support, can go a long way in designing the patient’s life.