Parry-Romberg syndrome

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at October 10, 2016
StartDiseasesParry-Romberg syndrome

Parry-Romberg syndrome, also known as Romberg disease, is a rare condition resulting in the progressive atrophy or shrinking of the soft tissue and skin on one side of the face. The atrophy most often affects the left side of the face and may be accompanied by other neurological disorders, including seizures. In rare instances, Romberg disease can also cause limb atrophy on the same side of the body as the facial atrophy.

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Definition & Facts

Parry-Romberg syndrome was first described by C.H. Parry in 1825. It frequently goes undiagnosed or is misdiagnosed, so it is difficult to determine its true prevalence in the general population. It is believed to affect approximately 1 in every 250,000 people. The condition appears to occur at a slightly higher rate in women than men.

Most people with Parry-Romberg syndrome develop symptoms by the age of 20; however, it has also been documented in individuals over the age of 50. Other neurological conditions, such as Bell’s palsy, can produce symptoms that are somewhat similar to Romberg disease.

Symptoms & Complaints

The symptoms of Parry-Romberg syndrome can vary significantly from person to person. The most characteristic symptom is the thinning and shrinking of the facial tissues. In some individuals, the atrophy is barely perceptible while in others it causes significant facial asymmetry. In most patients, the condition will progress for several years before stabilizing.

The atrophy typically begins near the middle of the face and can progress to include the upper face, the angle of the mouth, and the lower jaw. In some cases, a distinct line can develop on the forehead between the affected and the unaffected skin. The abnormal skin may develop a form of scleroderma where it becomes hard and thick.

Depending on how the disease affects the area around the eye, the patient may also experience optic nerve and retina problems. Many patients with Romberg disease also experience hair loss on the affected side of the body resulting in bald patches on the scalp and a lack of eyelashes and the middle portion of the eyebrow. Individuals with the condition may also experience changes in skin pigmentation. Other symptoms common in patients with Parry-Romberg syndrome include:

It is also common for patients with Parry-Romberg to suffer from depression and anxiety as a result of the changes in their appearance. 

Causes

Romberg disease appears to occur randomly, and a specific cause for the condition has not been identified. One theory is that inflammation affecting the facial nerves triggers an autoimmune response in which antibodies attack the tissue. Some individuals with the condition have a history of trauma involving the face or head trauma; however, this is rare and most likely coincidental.

There are rare cases of multiple family members being affected with the condition; however, there is no specific evidence suggesting that the condition can be inherited. Other possible theories for the development of Parry-Romberg syndrome include viral infections, inflammation of the brain and its covering, and abnormal blood vessel formation. More research is needed to determine the underlying cause of the condition or if it may be the result of multiple factors that can vary from case to case.

Diagnosis & Tests

Parry-Romberg syndrome is typically diagnosed on the basis of the patient’s medical history as well as the characteristic facial appearance. If the patient is experiencing neurological symptoms, such as seizures, additional tests may be used to rule out other conditions. For example, a magnetic resonance imaging (MRI) may be used to obtain cross-sectional images of the brain and facial structures.

In cases where there is sclerosis of the abnormal skin, a biopsy may be performed. This involves removing a small portion of the affected skin for closer examination under a microscope.

Although there are similarities, Parry-Romberg syndrome can usually be differentiated from other conditions that can cause craniofacial abnormalities. For example, Bell’s palsy causes weakness of the facial muscles that is not present with Romberg disease. Other conditions that can cause similar facial abnormalities typically also cause cardiac, skeletal, renal, or metabolic anomalies that are not seen in Parry-Romberg syndrome.

Treatment & Therapy

Treatment of Romberg disease is directed toward the patient’s specific symptoms. For many patients, treatment may require coordination between a variety of specialists, including ophthalmologists, dermatologists, neurologists, and others. Some symptoms, such as seizures and migraines, may be treated using medications.

Cosmetic concerns can be addressed with surgery. As a general rule, surgery is not recommended until the face and skull are fully developed. During this time, a series of medical photographs may be taken to monitor the progress of the condition.

Surgical techniques used to restore the facial appearance include silicone or fat injections, bone implants, and flap/pedicle grafts. During a flap/pedicle graft, the grafted skin and tissue is left attached to the original site while it heals in place to ensure a constant blood supply. Any surgical procedure does pose the risk of scar tissue that can affect the final outcome.

Since Parry-Romberg syndrome typically occurs during childhood and adolescence, it can significantly affect a child’s self-esteem and lead to anxiety and depression. Children and teens with the condition may benefit from psychotherapy or counseling to help them cope with the psychological and emotional symptoms of the condition.

Prevention & Prophylaxis

There is no way to prevent Parry-Romberg syndrome, and the prognosis is quite variable. In some cases, the atrophy will stabilize before the entire face is affected. Research is ongoing in the hopes of finding new methods of preventing, treating, and curing the condition.

One investigational therapy involves the use of immunosuppressive drugs in patients with severe Parry-Romberg syndrome. This is based on the theory that the condition is autoimmune in nature. Drugs being investigated include corticosteroids, methotrexate, cyclophosphamide, and azathioprine. It is unclear at this time whether these drugs are beneficial at all in treating the condition. More research is also needed to determine the safety and long-term effectiveness of this type of treatment.