Introduction:
Parry-Romberg syndrome is an incredibly rare disorder characterized by the slow, progressive deterioration of the skin and soft tissues of half of the face (hemifacial atrophy) and, in very rare cases, the entire face. In some cases, Parry-Romberg will not only affect the face of a patient but certain limbs as well. Neurological abnormalities, or abnormalities with the subject’s teeth and/or eyes, are other side effects from Parry-Romberg syndrome. Though it can affect males, Parry-Romberg is more common in females. The severity of symptoms in people varies greatly from patient to patient. Currently, the cause of Parry-Romberg syndrome is unknown and seems to appear sporadically in patients.
Symptoms and Diagnosis:
Parry-Romberg is extremely rare and seemingly affects 1 in 250,000 people. The syndrome is usually diagnosed early in life between the ages of 5 and 15. It is much more common for people to have mild cases of Parry-Romberg rather than severe cases. The defining symptom of Parry-Romberg syndrome is the atrophy of various tissues on the whole or half of someone’s face. The progression of the facial atrophy usually lasts from 2 to 10 years, then the process usually enters a phase of stability. Though, due to the shrinkage of fat, skin, connective tissues, and muscle on the face, the subject develops asymmetry, with one half of their face appearing to be “sunken in.” When the disease surrounds the eye, problems with the retina and optic nerve may occur. Frequently, the facial atrophy progresses slowly for several years before stopping. In extremely rare cases, the atrophy will resume later in life. In other cases, the atrophy progressed indefinitely. Cases in which the Parry-Romberg syndrome started earlier in life had the atrophy accelerate faster than those who had it later.
In terms of the progression of Parry-Romberg, the shrinkage usually starts in the middle portion of the face with the cheeks and upper jaw area or between the nose and the upper corner of the lip. The disease then usually affects the upper part of the face (eye, eyebrow, and ear area) as well as the lower jaw bone and sometimes the chin. Individuals may exhibit an unusually bony or hollow appearance in the forehead, the bony cavity that accommodates the eye, and/or the lower jawbone. Some cases even develop a distinct line down the center of their face where the unharmed portion meets the portion going through atrophy. The abnormal skin on half the face is thickened and hardened (sclerosis). This condition is referred to as linear scleroderma “en coup de sabre” or LSCS. LSCS does not always accompany Parry-Romberg and can occur by itself. According to the medical literature, LSCS is either a separate disorder that commonly overlaps with Parry-Romberg syndrome or essentially the same disorder. Though the relationship between LSCS and Parry-Romberg is not fully understood, the two do frequently co-exist with about one third of people with Parry-Romberg also having LSCS.
Another area that Parry-Romberg does sometimes affect is the ear area. Some people’s ears become small, misshapen, and/or protrude abnormally due to the shrinkage of supporting tissue. In about 20% of cases, limbs such as the arms, and legs of a patient go through the same atrophy as the face. Usually this happens on the same side of the body that the facial atrophy happens on, but in some cases it has happened on the opposite side. Additionally, subjects with Parry-Romberg syndrome develop bald patches, lose eyelashes, lose the middle section of their eyebrow, and/or develop white hair on the affected side of their face. As said before, Parry-Romberg has been known to lead to abnormalities in the mouth and teeth of some people as well. Subjects have also been known to develop dermatological abnormalities such as hyperpigmentation and vitiligo. These lead to abnormal darkening or skin fading, and/or white patches on those affected with Parry-Romberg. Lastly, Parry-Romberg can affect the eyes with the loss of tissue creating a sunken in look in the eye area. Additional ocular symptoms include displacement of the eyeball farther back in the eye socket, drooping of the upper eyelid, different colored eyes, and difficulty closing the eye.
Neurological side effects in some cases of Parry-Romberg are migraine headaches that are more sensitive and prolonged than those seen in the normal person. About 10% of subjects with Parry-Romberg experience epiliptic seizures, which are characterized by jerky movements on the side of the body not affected by hemifacial atrophy. Additional neurological symptoms include abnormal sensations (e.g., prickling or burning sensations called paresthesia) in the facial area and/or episodes of severe pain in the facial areas. Jaw spasms sometimes occur in Parry-Romberg syndrome, usually on the same side as the hemiatrophy. In some cases, people experience weakness on the side of the body opposite the hemiatrophy.
Causes:
The cause of Parry-Romberg syndrome is unknown and believed to happen sporadically, though there are multiple theories on what starts it. Some of the theories include viral or bacterial infections, autoimmune diseases, nervous system abnormalities, inflammation of the brain or meninges (lining of the skull), and physical trauma. Scientists do not believe it is genetic due to the fact that it is extremely rare for someone with Parry-Romberg to have a relative with the same condition.
In recent years, studies have highlighted the possibility of the “somatic mutation” of genes causing the disease. Somatic mutations are genetic problems that occur after the sperm has fertilized the egg, but when the developing human being is still a “ball of cells.” At this stage, one of the cells can develop a spontaneous genetic mutation, which can cause problems later on. It is not known if this is the cause of Parry-Romberg, but it is a hypothesis.
Treatment:
There is no treatment or cure to stop Parry-Romberg syndrome. Surgery may help repair tissue, but it cannot stop the disease altogether. Even then, people are generally advised to wait until after the atrophy has ceased or reached a stable period to receive the surgery. Unfortunately for some, this can take up to 10 years. Muscle or bone grafts have also been known to help people with Parry-Romberg.
Conclusion:
Parry-Romberg is a fascinating, rare disease that causes atrophy in different parts of someone’s face and body. It affects mostly women, and can have a slew of side effects that target not only the physical body but also the brain. The cause of Parry-Romberg is unknown, and although there are no known treatments to cure Parry-Romberg, there are various institutions dedicating time and effort to understanding this rare disease. The hope is that sometime in the future, people will no longer have to suffer from what is known as the face deflating disease.
References:
“Parry Romberg Syndrome.” rarediseases.org, National Association for Rare Diseases, rarediseases.org/rare-diseases/parry-romberg-syndrome/. Accessed 21 July 2020.
“Parry-Romberg Syndrome Information Page.” NIH.gov, National Institute of Neurological Disorders and Stroke, 27 Mar. 2019, http://www.ninds.nih.gov/ Disorders/All-Disorders/Parry-Romberg-information-page. Accessed 21 July 2020.
“Symptoms & Causes of Parry-Romberg Syndrome.” ChildrensHospital.org, Boston Children’s Hospital, http://www.childrenshospital.org/conditions-and-treatments/ conditions/p/parry-romberg-syndrome/symptoms-and-causes. Accessed 21 July 2020.
Youth Medical Journal 