Rare Diseases Types An Overview of Parry Romberg Syndrome By Jenny Lelwica Buttaccio, OTR/L twitter linkedin Jenny Lelwica Buttaccio, OTR/L, is a licensed occupational therapist and advocate for patients with Lyme disease. Learn about our editorial process Jenny Lelwica Buttaccio, OTR/L Medically reviewed by Medically reviewed by Caitilin Kelly, MD on February 18, 2020 Caitilin Kelly, MD, is a clinical physician at Indiana University Health Bloomington Hospital and is board-certified in internal medicine. Learn about our Medical Review Board Caitilin Kelly, MD Updated on February 19, 2020 Print Table of Contents View All Table of Contents Symptoms Causes Diagnosis Treatment Prognosis 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 hemiatrophyIdiopathic hemifacial atrophyRomberg’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. PRS is considered rare because it impacts less than three individuals per 100,000 people, notes the journal Medicine. Additionally, PRS is more likely to occur in females than in males. 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. Illustration by Emily Roberts, Verywell Symptoms 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. Other Symptoms Impairment in the muscles and tissues of the nose, mouth, tongue, eyes, brow, ears, and neckThe mouth and nose may appear to be displaced to one sideThe eye and the cheek may look as though they are sunken in on the affected sideChanges in skin color, either light or darkLoss of facial hairFacial painSeizuresMigrainesNervous system issuesInvolvement of the eyeJaw and teeth may be affected Causes 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)AutoimmunityBacterial infections like Lyme diseaseViral infections like herpesDysfunction of the nervous systemEncephalitis or inflammation of the brainVasculitis or blood vessel abnormalitiesSclerodermaBenign 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. Diagnosis 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. Treatment 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 corticosteroidsImmunomodulators. (A combination of methotrexate and prednisone is often used.)PlasmapheresisAnticonvulsant drugs to reduce seizures when applicableAntimalarialsVitamin 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 lasersDermal fat graftsAutologous fat grafts where fat is removed from your own bodyMuscle flap graftsSilicone injections or implantsBone graftsCartilage graftsHyaluronic acid injections to fill in areas beneath the skin How Scleroderma Is Treated Prognosis 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. A Word From Verywell 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. Was this page helpful? Thanks for your feedback! Sign up for our Health Tip of the Day newsletter, and receive daily tips that will help you live your healthiest life. Sign Up You're in! Thank you, {{form.email}}, for signing up. There was an error. Please try again. What are your concerns? Other Inaccurate Hard to Understand Submit Article Sources Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy. Wong M, Phillips CD, Hagiwara M, Shatzkes, DR. Parry Romberg Syndrome: 7 Cases and Literature Review. American Journal of Neuroradiology. 2015 July; 36(7): 1355-1361. DOI: 10.3174/ajnr.A4297. Tolkachjov, S.N., Patel, N.G. & Tollefson, M.M. Progressive hemifacial atrophy: a review. Orphanet J Rare Dis 10, 39 (2015). https://doi.org/10.1186/s13023-015-0250-9 Additional Reading Boston Children’s Hospital. Symptoms & Causes of Parry-Romberg Syndrome. Genetic and Rare Disease Information Center. Progressive hemifacial atrophy. National Organization for Rare Disorders. Parry Romberg Syndrome. Vix J, Mathis S, Lacoste M, Guillevin R, Neau JP. Neurological Manifestations in Parry–Romberg Syndrome: 2 Case Reports. Medicine. 2015 July; 94(28): DOI: 10.1097/MD.0000000000001147. Wong M, Phillips CD, Hagiwara M, Shatzkes, DR. Parry Romberg Syndrome: 7 Cases and Literature Review. American Journal of Neuroradiology. 2015 July; 36(7): 1355-1361. DOI: 10.3174/ajnr.A4297.