Parry-Romberg Syndrome

Parry-Romberg syndrome, also known as Romberg’s disease or progressive hemifacial atrophy, is a rare atrophic disorder characterized by a progressive deterioration of the skin and soft tissues of half the face. It typically affects the left side of the face, and is more common in females than in males. Parry-Romberg syndrome is often accompanied by neurological abnormalities, including seizures.

Symptoms of Parry-Romberg syndrome include loss of tissue in any region of the face. It generally begins as a subtle change and may progress to severe deterioration of the soft tissues with pigment changes in the skin.

Any part of the face can be affected and progressive involvement of different regions may occur. The tongue, roof of the mouth and gums may also be affected, and in some children the eyes or cheeks may appear sunken. Facial hair may turn white and fall out. The skin can also become darkly pigmented or show patches of unpigmented skin.

The typical onset of the disease is in the first or second decade of life (ages 5-15) and involves a slow progressive loss of skin, subcutaneous fat, muscle and occasionally bone. Suspected causes include autoimmune disease, abnormalities of the sympathetic nervous system, trigeminal neuritis, and following a viral illness. No cause is proven at this time.

The period of atrophy may last 5-10 years or more, and then is typically followed by a period of no active disease, called the burnout period.

Medical treatment has been largely unsuccessful, and surgery remains the mainstay of treatment for Parry-Romberg syndrome. Most surgeons favor waiting until the disease has “burned out” before initiating treatment.

For modest deformities, fat transfer using injection techniques is usually performed and may need to be done on multiple occasions. Dermal fillers such as sodium hyaluronate and polylactic acid may also be considered.

For patients more severely affected by Parry-Romberg syndrome, the preferred treatment method includes transfer of soft tissue from another region of the body using microsurgical techniques. For some patients, the two techniques may be combined to achieve optimal results.

Because Parry-Romberg syndrome includes progressive deterioration of the skin and soft tissues as well as neurological issues such as seizures, experienced, multidisciplinary team care is extremely important in achieving the best outcomes for your child.

At CHOP, children with Parry-Romberg syndrome have access to the nation’s top pediatric specialists and coordinated care across many clinical areas. Depending on your child’s unique needs, he may be treated through our multidisciplinary Craniofacial Program or our Pediatric Regional Epilepsy Program. Your child’s medical team will work closely with your family and referring physicians to addresses the physical, neurological and psychosocial needs associated with this syndrome, including surgical repair, treatment of seizures and long-term follow-up care.

Reviewed by: Scott Bartlett, MD and Jesse Taylor, MD
Date: February 2014