Parry-Romberg Syndrome

Parry-Romberg syndrome (also known as progressive hemifacial atrophy) is a rare neurocutaneous syndrome characterized by progressive shrinkage and degeneration (atrophy) of the tissues beneath the skin. This usually affects only one side of the face (hemifacial atrophy), but it can occasionally extend to other parts of the body.

It may affect as many as 1 in 250,000 people in the general population. There appears to be a higher prevalence in females, typically between 5-15 years of age, and usually on the left side. 

Patients can be seen by Texas Children's experts in Plastic Surgery.

Causes & Risk Factors

The precise causes of this acquired disorder remain unknown. An autoimmune (abnormal body’s immune response against itself) mechanism is suspected, and the syndrome may be a variant of localized scleroderma, but most cases appear to occur randomly for unknown reasons (sporadically).

Symptoms & Types

The symptoms, progression and severity are highly variable from person to person and range from mild to severe cases. Affected individuals will not have all of the symptoms discussed below.

The characteristic symptom of Parry-Romberg syndrome is thinning or shrinkage (atrophy) of various tissues of the face including fat, skin, connective tissues, muscle, and, in some cases, bone. The degree and progression of atrophy can vary widely.

Neurological abnormalities are common. Roughly 45% of people are also afflicted with trigeminal neuralgia (severe pain in the tissues in the forehead, eye, cheek, nose, mouth and jaw) and/or migraine (severe headaches that may be accompanied by visual abnormalities, nausea and vomiting). About 10% of affected individuals develop seizures as part of the disease.

The tissues of the mouth, including the tongue, gingiva, teeth and soft palate are commonly involved. 50% of affected individuals develop dental abnormalities such as delayed eruption or dental root exposure. 35% have difficulty or inability to normally open the mouth or other jaw symptoms.

Enophthalmos (recession of the eyeball within the orbit) is the most common eye abnormality observed. It is caused by a loss of subcutaneous tissue around the orbit. Other common findings include drooping of the eyelid (ptosis), constriction of the pupil (miosis), redness of the conjunctiva, and decreased sweating (anhidrosis) of the affected side of the face. 

Diagnosis & Tests

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.  

Computerized Tomography (CT) and Magnetic Resonance Imaging (MRI) may be used to see the deep tissues that have been affected.

Treatment & Care

There is no cure and there are no treatments that can stop the progression. Treatment may require the coordinated efforts of a team of specialists, like pediatricians, rheumatologists, surgeons (especially plastic surgeons), dentists, ophthalmologists, dermatologists, neurologists, and other health care professionals.

Medical management may involve immunosuppressive drugs such as methotrexate, corticosteroids, cyclophosphamide, and azathioprine. No randomized controlled trials have yet been conducted to evaluate such treatments, so the benefits have not been clearly established.

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 ended and the extent of resulting facial deformity is known.

Surgical techniques include fat injections, flap/pedicle grafts, or bone implants. These procedures may be effective in achieving cosmetic improvement.

Living & Managing

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.

There are some investigational therapies being tested.

 

http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/...