Parry-Romberg Syndrome Diagnosis and Treatment

Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. It is more common in females than in males.

What are the signs and symptoms of Parry-Romberg syndrome?

Initial facial changes usually involve the tissues above the upper jaw (maxilla) or between the nose and the upper corner of the lip (nasolabial fold) and subsequently progress to the angle of the mouth, areas around the eye, the brow, the ear, and the neck.

The deterioration may also affect the tongue, the soft and fleshy part of the roof of the mouth, and the gums. The eye and cheek of the affected side may become sunken and facial hair may turn white and fall out (alopecia).

In addition, the skin overlying affected areas may become darkly pigmented (hyperpigmentation) with, in some cases, areas of hyperpigmentation and patches of unpigmented skin (vitiligo).

Parry-Romberg syndrome is also accompanied by neurological abnormalities including seizures and episodes of severe facial pain (trigeminal neuralgia).

At what age does Parry-Romberg syndrome occur?

The onset of the disease usually begins between the ages of 5 and 15 years. The progression of the atrophy often lasts from 2 to 10 years, and then the process seems to enter a stable phase.

Muscles in the face may atrophy and there may be bone loss in the facial bones. Problems with the retina and optic nerve may occur when the disease surrounds the eye.

Causes

The cause of Parry-Romberg syndrome is unknown. Most cases appear to occur randomly for unknown reasons (sporadically).

Different theories have been proposed to explain the development of the disorder including abnormal development or inflammation of the sympathetic nervous system; viral infections; inflammation of the brain and membranes (meninges) covering the brain (meningoencephalitis); trauma; abnormalities of blood vessel formation (angiogenesis); or autoimmunity.

One specific theory is that inflammation in the nerves that supply skin and fat causes an autoimmune reaction. Autoimmune disorders occur when the body’s immune system mistakenly attacks healthy tissue.

The immune system produces specialized proteins called antibodies that destroy foreign materials (e.g., bacteria, viruses, toxins) .

When antibodies react against healthy tissue, they are known as autoantibodies. The re is some evidence from a variety of sources that autoimmune inflammation occurs in Parry-Romberg syndrome but it is not known if this is the main cause.

Some individuals with Parry-Romberg syndrome have a history of trauma to face or head. Because many individuals with Parry-Romberg syndrome do not have a history of trauma this may be a coincidental finding.

More research is necessary to determine what role, if any, that trauma plays in the development of Parry-Romberg syndrome.

In rare cases, some individuals with Parry-Romberg syndrome have had relatives with facial asymmetry. However, there is no specific evidence suggesting that a genetic component plays a role in the development of Parry-Romberg syndrome.

More research is necessary to determine the specific, underlying cause(s) of Parry-Romberg syndrome.

It is possible that the cause may be different in one person than in another and the development of the disorder may require multiple different factors occurring together.

Affected Populations

Parry-Romberg syndrome is a rare disorder. The true incidence is unknown. Because the disorder often goes undiagnosed or misdiagnosed determining the true frequency of Parry-Romberg syndrome in the general population is difficult.

Physicians studying the disorder have estimated that Parry-Romberg may affect as many as 1 in 250,000 people in the general population.

In reported cases, Parry-Romberg syndrome appears to affect women slightly more often than men but proper studies of the population are lacking.

Parry-Romberg syndrome typically becomes apparent during the first or early during the second decade of life, with the majority of affected individuals experiencing symptoms before the age of 20 years.

However, the disorder has been described in infants and individuals more than 50 years of age. Parry-Romberg syndrome was originally described in the medical literature in 1825 (C.H. Parry) and 1846 (E. Henoch and H.M. Romberg).

There are anecdotal reports of Parry-Romberg syndrome worsening in some pregnant women, either during pregnancy or shortly after childbirth.

Is there any treatment for Parry-Romberg syndrome?

There is no cure and there are no treatments that can stop the progression of Parry-Romberg syndrome. Reconstructive or microvascular surgery may be needed to repair wasted tissue.

The timing of surgical intervention is generally agreed to be the best following exhaustion of the disease course and completion of facial growth.

Most surgeons will recommend a waiting period of one or two years before proceeding with reconstruction. Muscle or bone grafts may also be helpful. Other treatment is symptomatic and supportive.

What is the prognosis for Parry-Romberg syndrome?

The prognosis for individuals with Parry-Romberg syndrome varies. In some cases, the atrophy ends before the entire face is affected.

In mild cases, the disorder usually causes no disability other than cosmetic effects.

What research is being done for Parry-Romberg syndrome?

The NINDS supports research on neurological disorders such as Parry-Romberg syndrome with the goal of finding ways to prevent, treat, and cure them.

Diagnosis

A diagnosis of Parry-Romberg syndrome is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.

The specific tests that are used depend on which symptoms are present and which symptoms occur first. For example, magnetic resonance imaging (MRI) may be used in individuals with neurological symptoms.

An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues.

Surgical removal and microscopic examination (biopsy) of affected skin tissue may be used in individuals with linear scleroderma en coup sabre.

Symptomatic Treatment

The treatment of Parry-Romberg syndrome is directed toward the specific symptoms that are apparent in each. Treatment may require the coordinated efforts of a team of specialists.

Pediatricians or internists, surgeons (especially plastic surgeons), dentists, ophthalmologists, dermatologists, neurologists, and/or other health care professionals may need to systematically and comprehensively plan an affected individual’s treatment.

For example, migraine, epilepsy or uveitis can be treated as they would in any other situation.

A variety of surgical techniques have been used to improve cosmetic appearance in affected individuals. The success rates of these surgical options are highly variable.

Surgical treatment is usually not advised until the atrophic changes have ceased and the extent of resulting facial deformity is known.

Some doctors advise those with Parry-Romberg syndrome to postpone any surgical procedures until the skull and face are fully developed and the symptoms have subsided for at least a year.

Monitoring can be done by having medical photographs taken over a period of time, to be used for comparison. Surgery may leave scar tissue.

The effects of this scar tissue on subsequent surgeries should be considered for the final outcome.

Surgical techniques used to treat individuals with Parry-Romberg syndrome include fat or silicone injections, flap/pedicle grafts, or bone implants.

These procedures may be effective in achieving cosmetic improvement. It should be noted, however, that fat injections may be reabsorbed when given during the active disease phase.

A flap/pedicle procedure is a skin and tissue graft that is left temporarily attached to its original site in order to maintain a constant blood supply while it heals into place.

In some cases, additional measures may help treat certain abnormalities resulting from the disease process.

Associated dental abnormalities may be treated with additional surgical and/or other corrective techniques. Additional surgical, corrective, and/or supportive measures may help improve visual problems resulting from hemifacial atrophy.

Treatment with anticonvulsant drug therapy may help prevent, reduce, or control seizures potentially occurring in association with the disorder.

In addition, in affected individuals with trigeminal neuralgia, certain medications and/or surgical treatments may be beneficial in some cases.

Investigational Therapies

Some individuals with severe, progressive Parry-Romberg syndrome have been treated with drugs that suppress the activity of the immune system (immunosuppressive drugs) including methotrexate, corticosteroids, cyclophosphamide, and azathioprine.

These have been used because of the hypothesis that Parry Romberg Syndrome is an auto-immune condition and because it overlaps with the inflammatory condition Scleroderma ‘en coup de sabre’.

It is unclear how beneficial these drugs are, or indeed whether they are beneficial at all. More research is necessary to determine the long-term safety and effectiveness of immunosuppressive drugs in the treatment of Parry-Romberg syndrome.

Source & More Info: rarediseases.org and Medicine Net

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