Parry Romberg syndrome is a rare disease that causes the tissues beneath the skin to degenerate and shrink. It typically affects one side of the face but can spread to other parts of the body. The disease is often misdiagnosed or goes undiagnosed, so it is difficult to say how many people it affects, though experts studying Parry Romberg syndrome estimate as many as one in 250,000 people have the condition. It manifests in women more often than men, but, again, this is difficult to quantify. Most people begin to show symptoms in their twenties.

Characterization of Signs and Symptoms

It is important to note that symptoms of Parry Romberg syndrome vary significantly from one person to the next. The majority of people have mild symptoms, while some experience more severe effects. Individuals do not necessarily experience all of the symptoms discussed here, and the variation contributes to the under- and misdiagnosis of the disease.

Facial Tissue Atrophy

Thinning and shrinking of facial tissue on one side of the face is a hallmark symptom of Parry Romberg syndrome. This tissue atrophy affects muscle, fat, and skin, as well as connective tissue and, in extreme cases, bone. For some people with the syndrome, facial atrophy is very mild and hardly noticeable. For others, it is quite severe. Most people with this symptom present in one of two manners: either the symptom advances quickly over a few years and then stops completely, or it slowly progresses without stopping.

Progression

Facial changes in Parry Romberg syndrome start in the middle of the face, around the nose, upper lip, cheeks, or upper jaw. As they progress, the impact spreads outward on the affected side, toward the eyes, eyebrows, ears, and lower jaw. In severe cases, the chin is also affected. These areas become sunken as the fat, muscle, cartilage, and bone begin to shrink. Often, a distinct line forms down the center of the face where the affected side meets the unaffected side.

Mouth and Teeth

Parry Romberg syndrome can also affect the mouth and teeth, usually on the same side as the facial abnormalities. This can cause the lip to appear twisted, abnormally exposing the teeth. Deterioration may also affect the tongue. The lower jaw is more prone to spontaneous fracture, and the muscles used for chewing may involuntarily contract. In children, teeth come in unusually late.

Skin Issues

Skin abnormalities are also common with Parry Romberg syndrome. The skin over the affected areas can become abnormally dark or pale. In some cases, this occurs before tissue atrophy begins. Some people with Parry Romberg syndrome experience vitiligo or loss of pigmentation, resulting in white patches on the trunk, arms, and legs.

Neurological Symptoms

The severity of neurological syndromes varies in people with Parry Romberg syndrome. Some individuals experience migraine headaches that elicit nausea and vomiting and may become so severe that they cause light sensitivity and pupillary changes. Seizures occur in about 10% of people and usually affect the side of the body opposite the facial atrophy. Other neurological symptoms include burning or prickling sensations or nerve pain in the face and jaw.

Eye Abnormalities

Parry Romberg syndrome can also cause ocular changes due to tissue loss in and around the eye. The upper eyelid may droop, or the eyeball may slide back in the eye socket, creating a sunken appearance. Someone with Parry Romberg syndrome may also have two different colored eyes. Uveitis can cause swelling in the eye that affects the retina and cornea, leading to blindness in severe cases.

Other Changes

Parry Romberg syndrome also affects other parts of the body. The ear on the affected side is often smaller, misshapen, and sticking out at an awkward angle. In about 20% of cases, the arms, trunk, and legs are also involved. This can occur on the same or the opposite side of the body as the facial changes.

Causes of Parry Romberg Syndrome

No one knows what causes Parry Romberg syndrome, though some theories connect the disease to abnormal development of the sympathetic nervous system, viruses, meningitis, blood vessel abnormalities, and autoimmune responses. It is possible the condition has multiple causes. There is no evidence supporting the idea that Parry Romberg syndrome is genetic.

Diagnosis

Doctors diagnose Parry Romberg syndrome by identifying the hallmark symptoms, such as facial tissue atrophy and drooping. The doctor takes a thorough health history and performs a physical exam and may order tests if certain symptoms are present. For example, MRIs can help determine the cause of seizure activity. CT scans and lumbar punctures can gather additional information to help with diagnosis. There is no definitive test to diagnose Parry Romberg syndrome.