Parry-Romberg Syndrome (Progressive Hemifacial Atrophy, Scleroderma) is a rare nerve and skin (neurocutaneous) syndrome characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy), but occasionally extending to other parts of the body.
Parry-Romberg syndrome is a rare, acquired disease involving involution, or “wasting away”, of tissues typically on one side of the face. It has been described by several other names, including Romberg syndrome, progressive hemifacial atrophy, idiopathic hemifacial atrophy, and progressive facial hemiatrophy.
What causes Parry-Romberg syndrome?
The exact cause of Parry-Romberg syndrome is unknown. The disease does not appear to have a hereditary basis, and occurs more frequently in females. There are several theories as to the etiology, or cause, of the disease. One theory is that Parry-Romberg syndrome is an autoimmune disorder. The immune system is responsible for defending the body against disease. In autoimmune disorders, the immune system recognizes healthy cells in the patient’s own body as foreign, and attacks those cells. Examples of autoimmune diseases include rheumatoid arthritis, systemic lupus erythematosis, psoriasis, inflammatory bowel disease, and others. Another theory is that the disorder is related to neuro-vasculitis, or inflammation of the small blood vessels along the branches of the trigeminal nerve, which is responsible for facial sensation and the muscles of mastication (chewing). Infection and trauma have been proposed as causes of Parry-Romberg syndrome. Finally, dysfunction of the sympathetic nervous system, which regulates many body functions including sweating and pupil dilation, has been proposed.
How are patients with Parry-Romberg syndrome affected?
Parry-Romberg syndrome usually presents in the first 20 years of life. The disease is slowly progressing, with an “active phase” lasting from 2-10 years. During this time, there is atrophy, or “wasting away”, of tissue on one side of the face. This most frequently involves subcutaneous tissue (the fat beneath the skin), followed by the skin and muscles of the face. When the disease occurs early, the facial skeleton on that side may be involved. This leads to facial asymmetry (different appearance on each side of the face), with a “sunken-in” appearance on the affected side. A frequently described finding is a straight depression extending from the brow to the hairline, known as the “coup de sabre”, or “cut of the sabre”. After 2-10 years, the disease “burns out”, and the degree of deformity becomes stable.
In addition to the facial and skin findings, Parry-Romberg syndrome can affect other parts of the body. Symptoms may include seizures, headaches, seizures, trigeminal neuralgia (pain on one side of the face, in the distribution of the trigeminal nerve), vision problems, and others.
How is Parry-Romberg syndrome diagnosed?
The diagnosis of Parry-Romberg syndrome is largely clinical, based on the patient’s history and physical examination. There is a similar disease called “linear scleroderma”, which differs from Parry-Romberg syndrome in scope (linear scleroderma may only involve the upper face from scalp to forehead) or in other ways, although they may represent the same disease spectrum. Biopsies, or tissue samples, are of limited help in the diagnosis of Parry-Romberg syndrome. Bloodwork and imaging add little to the diagnostic workup, although imaging and EEGs may be used when there are seizures or neurologic (brain and nervous system) symptoms.
How is Parry-Romberg syndrome treated?
Treatment for Parry-Romberg syndrome requires a multidisciplinary approach, with coordination between the primary care physician, rheumatology, and plastic surgery teams. During the active phase of the disease, medications such as methotrexate and steroids are used, and can induce disease remission. Other immunosuppressive medications, which modulate the response of the patient’s immune system, have been used when methotrexate is unsuccessful.
Surgical treatment of Parry-Romberg syndrome is delayed until the disease progression reaches a plateau, or “burns out”. The treatment then largely depends on the tissues which have been affected. For milder cases, in which only the tissues immediately beneath the skin are affected, fat grafting, or liposuction and injection of the patient’s own fat, may be an effective treatment. In more severe cases, free tissue transfer, or “free flaps” are needed. This involves the transfer of tissue from another part of the body by connecting blood vessels to and from this tissue to blood vessels in the head and neck region (please see the microsurgery page on this website). Patients in whom the facial skeleton is involved may benefit from augmentation of the facial bones. This may involve prosthetic materials or transfer of the patient’s own bone from another part of the body (bone grafting).
Please contact the Craniofacial Team of Texas if you would like to schedule an appointment.
If you would like more information about this craniofacial anomaly, please contact the Craniofacial Team of Texas by calling 512-377-1142 or toll free 877-612-7069 to schedule an appointment or complete an online appointment request.