An Overview of Parry Romberg Syndrome

Parry Romberg syndrome (PRS) is a disease that’s marked by a gradual degeneration of the skin and soft tissue areas on one half of the face (known as hemifacial atrophy), states the Genetic and Rare Disease Information Center (GARD) of the National Institutes of Health (NIH). The disease is acquired, meaning it’s not an inherited condition or present at the time of birth; it develops after birth. Typically, the syndrome begins in childhood or young adulthood, and, most commonly, the facial atrophy occurs on the left side of the face.

Parry Romberg syndrome may be referred to by other names as well, such as:

• Progressive hemifacial atrophy (PHA)
• Progressive facial hemiatrophy
• Idiopathic hemifacial atrophy
• Romberg’s syndrome

In certain circumstances, the disease may progress to both sides of the face. It may even affect an arm, the midsection, or a leg.

The first descriptions of PRS were provided by Caleb Parry in 1825 and Moritz Romberg in 1846. Often, PRS is linked to a form of scleroderma called linear scleroderma, or "en coupe de sabre" (ECDS), in which a localized area on the skin and the tissues beneath the skin contain abnormalities similar to those found in PRS. At the present time, the cause of the syndrome isn’t well understood, and the etiology may vary from one person to another.

The signs and symptoms of PRS can range from mild to severe. The characteristic symptoms of PRS are atrophy of the skin and soft tissues. Additionally, muscle, cartilage, and bone may be affected. Because PRS is a progressive disease, all symptoms worsen over time until reaching a period of stability.

The cause of PRS is unknown, but a number of theories have emerged over the years as to possible factors that contribute to the disease. Such ideas include:

• Trauma (some cases of PRS seemed to have originated from trauma to the face or neck)
• Autoimmunity
• Bacterial infections like Lyme disease
• Viral infections like herpes
• Dysfunction of the nervous system
• Encephalitis or inflammation of the brain
• Vasculitis or blood vessel abnormalities
• Scleroderma
• Benign tumors

One cause may not apply to all incidences of PRS. In reality, there may be a set of factors that contributed to the development of the condition in one individual, and those factors may be entirely different for another person. Currently, more research is needed for PRS to help pinpoint an underlying source of this disease.  

To diagnose PRS, your physician or medical team will look for the distinguishing characteristics of the condition. Generally, the onset of PRS occurs in children between the ages of five and 15 years of age. The doctor will take a detailed medical history and perform a comprehensive physical examination.

During the physical exam, the physician will check for reduced facial skin integrity and a loss of fat, muscle, and bone. The doctor may decide further testing is needed, such as a CT scan or MRI, to confirm a diagnosis of PRS.

In some cases, a biopsy of the affected skin may be recommended when a patient has a diagnosis of linear scleroderma as well.   

To date, there’s no one-size-fits-all approach to treating PRS. Treatment is aimed at providing symptom relief, controlling seizures when they’re present, and stopping the further advancement of the disease, states a literature review in the American Journal of Neuroradiology . Many different specialties may be involved in care including dermatologists, eye doctors, surgeons and neurologists. There are currently no established guidelines to follow and many reports have involved small numbers of people or case reports.

Because the etiology of PRS is often unclear, there are reports in the literature of many things being tried although none yet have proven efficacy:

• Immunosuppressive therapies like corticosteroids
• Immunomodulators. (A combination of methotrexate and prednisone is often used.)
• Plasmapheresis
• Anticonvulsant drugs to reduce seizures when applicable
• Antimalarials
• Vitamin D

PRS is considered self-limiting, meaning there’s a progressive period of deterioration, then, it reaches a period of stabilization. Once the condition has stabilized, surgical intervention and cosmetic treatments may be necessary to improve facial function and aesthetics. These treatments may include:

• Pulsed dye lasers
• Dermal fat grafts
• Autologous fat grafts where fat is removed from your own body
• Muscle flap grafts
• Silicone injections or implants
• Bone grafts
• Cartilage grafts
• Hyaluronic acid injections to fill in areas beneath the skin

Although PRS is a self-limiting condition, the severity of the symptoms can vary significantly from one person to another. Furthermore, the period of time it takes the disease to reach a period of stability also differs considerably among individuals.

GARD suggests it may take a person between two and 20 years to reach a point of stability. Additionally, those who develop PRS later in life may experience a less severe form of the condition due to having fully developed craniofacial structures and a nervous system.

It is possible for patients with PRS to relapse after treatment, according to a study in a 2014 issue of the Orphanet Journal of Rare Diseases.

There is still a lot of information yet to discover about PRS, and a diagnosis of the condition can have negative ramifications on a person’s mental health and social life. Due to the rarity of the syndrome, individuals may feel as if they are alone. Therefore, it’s important to find a doctor with whom you can trust and communicate your questions and concerns.

If you’re looking to connect with others with this disease, organizations like The Romberg Connection and the International Scleroderma Network offer support to patients and families and may be able to point you toward additional resources as well.