Parry-Romberg Syndrome

Parry-Romberg syndrome, also called Romberg syndrome or progressive facial hemiatrophy, is a condition where the tissue of one side of the face gradually wastes away. Over time, the soft tissue (muscle and fat) gradually shrinks, the facial bones may change, and the skin may become thin. The severity of this atrophy can vary widely between patients, ranging from mild to severe. Some children and adults with Parry-Romberg syndrome also have headaches, and seizures can also infrequently happen. The signs of Romberg syndrome overlap with another condition called linear scleroderma, and the line between the two is not always clear. The cause of Parry-Romberg syndrome is not known.

Parry-Romberg syndrome is thought to affect roughly one in 250,000 people, but the true incidence is not known because the condition is often misdiagnosed.

Parry-Romberg syndrome is a condition that starts in childhood and usually affects half of the face. In rare cases, both sides of the face are affected.

The most common symptom is the thinning or shrinkage (atrophy) of the skin, soft tissues, and in some cases muscle, cartilage, and bone.

Because it is a progressive condition, the symptoms worsen over time before entering a stable phase. The deterioration of the muscle and tissue includes areas around the nose, mouth, tongue, eyes, brow, ears, and neck.

The evident physical changes may include:

• The appearance that the mouth and nose are shifting or leaning toward one side
• A sunken-in appearance of both the eye, as well as the cheek, on the affected side of the face
• Changes in skin color (pigmentation), including darkening (hyperpigmentation) or lightening (hypopigmentation)
• Facial hair may turn white and fall out (alopecia)
• Facial bone or muscle loss

Systemic associations may include:

• Neurological symptoms (seizures, migraines, or episodes of severe facial pain known as trigeminal neuralgia)
• Ophthalmologic manifestations
• Orthodontic changes

Parry-Romberg syndrome is more common in girls. The cause of this disease is still unknown. Some factors thought to cause this disease include:

• Viral or bacterial infections
• Autoimmune diseases
• Nervous system abnormalities
• Inflammation of the brain or meninges (lining of the skull)
• Physical trauma

Doctors at Boston Children’s Hospital are able to diagnose this disease based on:

• A detailed review of your child’s complete medical history
• An extensive physical examination, looking for signs of progressive loss of skin, fat, muscle, and bone
• Specialized tests, like a CT scan or MRI (a painless imaging test that takes detailed pictures of structures inside the body)

Because Parry-Romberg syndrome may involve the lip, nose, mouth, and ears, it can affect a child’s hearing, feeding, speech, and dental functions. At Boston Children’s Hospital, our dedicated and knowledgeable team of specialists from several disciplines provides you and your child with the care and expertise necessary to treat this rare and complex condition.

Treatment typically involves surgery. The Cleft and Craniofacial Center at Boston Children’s is one of the largest and most experienced pediatric plastic and oral surgery centers anywhere in the world.

Our world-renowned surgeons perform very precise, complex reconstructive surgeries to treat Parry-Romberg. These surgeries are diverse, but not curative. Our surgeons usually recommend postponing surgery until the condition has stopped getting worse and has reached an inactive phase. This allows for the best treatment and reconstruction. The surgery (or surgeries) range across a large spectrum, but may include:

• Moving soft tissue and fat from other parts of the body to areas of need
• More extensive reconstruction for bone deformity using hardware or grafts

Our surgeons will discuss specific options with you and your child in order to personally tailor the treatment. Since every patient’s case is unique, the surgical approach may vary quite significantly to treat your child’s condition.

Families seeking the very best care for their child come to the Cleft and Craniofacial Center at Boston Children’s for our:

• Nationally recognized care: U.S. News & World Report ranks Boston Children's Hospital among the best children's hospitals.
• Surgical expertise: Very advanced surgical techniques and precision are required to treat this disease. Our surgeons are world renowned for treating complex craniofacial anomalies.
• Research and innovation: Our clinicians are involved in research that moves us closer to a better understanding of — and treatment for — all deformities of the head and face.
• Customized treatment: Our team will develop a customized treatment plan that meets your child's physical, emotional, and social needs — one that involves you and your family at every step of the treatment, from diagnosis to craniofacial surgery.
• Team approach: Our Cleft and Craniofacial Program includes some of the world’s most experienced neurosurgeons, plastic surgeons, oral and maxillofacial (jaw) specialists, dentistry professionals, psychologists, and social workers — all working together to address the many needs of your child and your entire family. Meet our craniofacial team.

For an appointment with the Cleft and Craniofacial Center, for more information, or to obtain a second opinion for your child, please call us at 617-355-6309 or email samantha.hall@childrens.harvard.edu.

For families residing outside of the United States, please call Boston Children's Global Services at +1-617-355-5209. Global Services facilitates the medical review of patient records and appointment scheduling, and also provides assistance with customs and immigration, transportation, and hotel and housing accommodations.