What is Parry-Romberg Syndrome?
Parry Romberg syndrome (PRS), also known as progressive half-face shrinking, was first identified by two doctors named C Parry and M Romberg. PRS is a medical condition that progressively causes one side of the face to lose fat, muscles, and bone — leading to a clear asymmetry or unevenness in the face. This usually starts in childhood or adolescence in people who were born normal. PRS often affects certain regions of the face which are connected to the trigeminal nerve, a nerve responsible for sensation in the face and functions like biting and chewing. Other parts of the body can also be affected, such as the eye, nervous system, jaw and facial bones, and even the heart, which may show symptoms at different times.
What Causes Parry-Romberg Syndrome?
The exact cause of Parry Romberg syndrome (PRS) is still up for debate. Here are some theories that are generally accepted:
1. “Trophonerosis” theory: This is an old understanding which suggests that the syndrome is due to malfunctions in certain nerves, especially the trigeminal nerve – a nerve that controls sensation in the face. This theory is supported by the symptoms of facial pain and abnormal eye findings, both of which are linked to the trigeminal nerve.
2. Autoimmune theory: This currently popular theory suggests PRS is due to the body’s immune system attacking itself. This is supported by the fact that PRS often overlaps with other autoimmune diseases like systemic sclerosis.
3. Neuro-vasculitis theory: This theory suggests that inflammation of blood vessels in the brain, similar to Rasmussen Encephalitis, a rare inflammatory neurological disease, might be responsible for PRS. The presence of brain blood vessel abnormalities and soft tissue tumors in some PRS patients gives some credence to this theory.
4. Sympathetic dysfunction: This theory suggests that inflammation or dysfunction of the sympathetic nervous system could be causing PRS. This part of the nervous system controls automatic functions of the body like heart rate and perspiration.
5. Hereditary mechanism: While there have been few familial cases, some believe that genetic factors might play a role in the development of PRS, although no specific gene has yet been identified.
6. Trauma-induced: Some surveys of PRS patients have found a potential link between head injury in early childhood and the start of PRS symptoms.
7. Infectious causes: There have been a few cases where infections with certain viruses have been linked to PRS.
Remember, these are all theories based on current knowledge and research. More studies are needed to fully understand the causes of PRS.
Risk Factors and Frequency for Parry-Romberg Syndrome
Pierre Robin syndrome (PRS) is a condition that isn’t very common, with about 0.3 to 2.5 people being diagnosed per 100,000 population every year. This condition tends to impact females more than males, with the ratio being about 1 male to every 3 females diagnosed.
- It typically starts to show up in the first two decades of a person’s life, although in some rare cases, it can affect older individuals.
- The average age when PRS is diagnosed is 13.2 years, and it is often diagnosed earlier in males than in females.
- PRS is a progressive condition, which means the symptoms can get worse over time. But there’s a silver lining – it can “burn out” and go into remission by itself within 2 to 20 years of showing symptoms.
- About 35% of people with PRS will experience symptoms related to the eyes.
- More so, 15 to 20% will present with neurological symptoms.
Signs and Symptoms of Parry-Romberg Syndrome
Parry-Romberg syndrome (PRS) is a type of scleroderma which affects only one side of the face. You can differentiate it from typical scleroderma by looking for three key signs. These include noticeable atrophy or shrinkage of one side of the face, little to no evidence of past inflammation or hardness, and thin, soft skin with no hardening.
Diagnosing PRS typically involves a look at the patient’s medical history and a physical examination. Symptoms and signs vary from person to person, but following are some common ones across different parts of the body:
- Face:
- Uneven facial features due to shrinkage of fat, muscles, and bones underneath the skin
- Patches of skin that are lighter or darker than normal on the face and neck on one side
- Hair loss affecting the eyebrows and eyelashes
- Eyes:
- Eyes sinking back into their sockets due to fat and bone loss
- Changes to the eyelids, such as drooping, retraction, and thinning
- Tumors in the orbit (the bony cavity containing the eye), although this is a rare finding
- Thin or fibrotic eye muscles, causing sudden onset strabismus (misalignment of the eyes), nystagmus (rapid, involuntary eye movement), and double vision
- Unusual pigmentation of the conjunctiva (the membrane covering the white part of the eyes)
- Neurologic:
- Seizures
- Pain in the head and face
- Loss of coordination, or difficulty walking or speaking
- Muscle spasms, contractions, or weakness
- Maxillofacial:
- Changes to the jaw and cheekbones, or rarely, the forehead
- Abnormal development of the teeth, or loss of gum and tongue tissue
- Cardiac: Thickening of the heart muscle, or rheumatic heart disease
- Endocrine: Thyroid problems or disorders related to metabolism
Please note, these symptoms and signs are common but not everyone with PRS experiences all of them. Also, these symptoms happen gradually over the course of many years, not all at once.
Testing for Parry-Romberg Syndrome
PRS, or Parry-Romberg syndrome, is usually diagnosed based on a physical examination and the patient’s symptoms. However, several tests can be conducted to confirm the diagnosis and rule out other conditions that may present similarly.
Eye Examination
First, an eye exam is conducted. This includes checking how well you can see, assessing light reflex of your pupils, examining your facial symmetry, head posture, eye movements, and checking for any crossed eyes (strabismus).
The eyelids and the inside of the sockets are also examined for any abnormality and the doctors will also check for any drooping of the eyelids (ptosis).
A detailed examination of the front part of the eye using an instrument called a slit lamp and a thorough examination of the back of the eye (fundus examination) are also performed.
Should there be any clouding that makes viewing the back of the eye difficult due to inflammation inside the eye (vitreous), cataract, or corneal clouding, an ultrasound of the eye may be performed. This helps in diagnosing any problems at the back of the eye.
Eye movement abnormalities and changes in the eye socket’s bone can be detected by a CT scan.
Neurology Examination
If seizures are a concern, an electroencephalogram or EEG, a test that measures electrical activity of the brain, is performed, and cerebrospinal fluid (CSF) analysis may be requested. The CSF analysis involves taking a sample of the fluid surrounding the brain and spinal cord for testing. Some findings in the MRI scan, such as brighter spots in certain brain areas on T2 sequence, are associated with these tests.
A CT scan of the brain can reveal bone anomalies, thinning of skull bones, and calcifications (gritty calcium buildups). The MRI scan can help locate areas of brain shrinkage and bright spots in the outer area of the brain. An MR angiogram, a special type of MRI, shows the location and extent of blood vessel malformations. On the other hand, a specialized tomography scan called SPECT can spot potentially hidden brain lesions, which are damaged or abnormal areas of the brain.
Rheumatology Examination
Blood tests for two markers, antinuclear antibody (ANA) and rheumatoid factor, are commonly conducted. While the ANA test comes out positive in 25 to 52% of cases, the rheumatoid factor test gets elevated in cases of localized hardening and tightening of the skin and soft tissues (scleroderma). Other diagnostic blood tests have limited value in diagnosing this condition.
Dental Examination
Regular dental X-rays and photographs are taken to keep a check on any progressing deformity of jaw bones and teeth abnormalities.
Skin Examination
Skin biopsy is rarely requested. However, when performed, it can help differentiate PRS from linear scleroderma en coup de sabre (LSCS), a condition that can appear similar to PRS but has different histopathological findings (observations under a microscope).
Treatment Options for Parry-Romberg Syndrome
The treatment of certain diseases like an active illness, acute flare-ups such as seizures and uveitis, and physical rehabilitation after complete recovery has several goals. These include stopping the disease from getting worse, managing symptoms during a flare-up, and helping to improve appearance once the disease is under control.
Usually, the go-to treatment involves using medicines that calm the immune system, such as methotrexate, which is typically taken orally or injected into the body. Sometimes, methotrexate is combined with steroids that are either taken orally or given intravenously. Other medicines like mycophenolate mofetil, cyclophosphamide, hydroxychloroquine, and cyclosporine may be used if the disease proves to be resistant to treatment. In some cases, a type of treatment using a medication called psoralen and light therapy (UV-A radiation) may also be used to help control the disease.
Eye problems such as uveitis (inflammation of the uvea, the middle layer of the eye) or keratitis (inflammation of the cornea, the clear layer at the front of the eye) are typically managed with eye drops and systemic steroids. If the cornea becomes opaque, a cornea transplant might be considered. If the eye disease advances to a stage called scleral melt, where the white outer layer of the eye starts dissolving, grafting a patch of tissue onto the sclera may be called for. For glaucoma and strabismus (a condition wherein the eyes do not line up in the same direction), medications, glasses, and sometimes surgery may be needed.
Sometimes the disease can affect the brain, causing seizures or mental health disorders, which are typically managed with medications and working closely with mental health specialists.
Once the disease has been managed and there has been no worsening for a year or two, doctors may consider treatments to help improve appearance, for instance using fillers to replace lost tissue or operating on droopy eyelids or brows.
For advanced cases with extensive tissue damage, a wide range of plastic surgery treatments are available, including synthetic fillers for mild to moderate facial asymmetry, autologous fat grafting (transferring fat from one part of the body to another), skeletal reconstruction, and free soft tissue transplantation.
What else can Parry-Romberg Syndrome be?
When trying to diagnose Parry–Romberg syndrome (PRS), doctors need to differentiate it from similar conditions. These include:
- Rassmussen encephalitis (RE): This disease involves seizures and one-sided brain disorder, resembling PRS. Pathology findings may display inflammation in blood vessels, adding to the complexity of accurately diagnosing PRS. Furthermore, some cases of PRS are observed along with RE, indicating progressive facial shrinkage.
- Barraquer-Simons syndrome: This condition is an acquired disorder that gradually leads to the loss of fat tissue in the face, neck, chest, stomach, and sometimes the limbs. It may be signified by epilepsy and brain shrinkage. This condition is distinguished from PRS by the gradual, symmetrical loss of fat tissue and kidney involvement.
- Hemifacial hypertrophy: This medical condition produces an uneven enlargement of half the face and head, which contrasts with hemiatrophy (shrinking of half the face), which PRS causes. It’s a significant clinical differential for skewed facial deformation.
- Hemifacial fat necrosis: In this condition, half of the face experiences tissue death due to a range of causes such as poliomyelitis, connective tissue diseases, or trauma. The absence of muscle or bone involvement helps in distinguishing these causes from PRS.
- Congenital deformities: Conditions such as congenital hemiatrophy or torticollis may mimic the facial asymmetry caused by PRS. A detailed account of how symptoms started can help to distinguish these conditions.
Understanding the differences among these conditions is crucial to make a correct diagnosis.
What to expect with Parry-Romberg Syndrome
The disease typically enters a burn-out phase, where symptoms may decrease, within 2 to 20 years of showing active signs. It often leads to significant changes in the facial structure, sometimes causing noticeable distortion.
Eye-related issues can range from inflammation of the eye (uveitis), inflammation of the cornea (keratitis), to problems with the retina (the sensitive layer of tissue at the back of the eye). These conditions require prompt treatment. Frequent episodes of eye inflammation or issues with the blood vessels in the retina can lead to secondary glaucoma, a condition that increases pressure in the eye and can affect vision.
Overall, the disease’s impact on the nervous system (relating to the brain, spinal cord, and nerves) is usually well-managed and causes little disability.
Possible Complications When Diagnosed with Parry-Romberg Syndrome
PRS, short for Pierre Robin Sequence, can lead to many complications with the eyes and the brain.
Here are examples of eye complications you may face:
- Cloudiness of the cornea
- High eye pressure, known as glaucoma
- Eye alignment issues, called restrictive strabismus
- The retina of the eye detaching
- Vision loss
- Shrinkage or scarring of the eyeball, known as phthisis bulbi or atrophic bulbi
- A contracted socket, where the space holding your eye becomes smaller
Potential complications related to the brain can also occur, such as:
- Recurring seizure attacks and severe, continuous seizures known as status epilepticus
- A brain injury from ruptured blood vessels, known as a subarachnoid hemorrhage
- An uncontrolled stream of blood from your carotid artery to your jugular vein, known as a carotid-jugular fistula, and tearing in the carotid artery, known as carotid dissection due to abnormal blood vessels in the brain
- A blockage or narrowing in brain blood vessels leading to a stroke, known as a cerebral infarction
Preventing Parry-Romberg Syndrome
Parry-Romberg syndrome (PRS), also known as progressive hemifacial atrophy, usually begins with changes in the skin color on the neck and face, which can look like unusual pigmented spots. This is typically followed by changes in the shape of the face, which may become uneven or asymmetrical. Alongside these physical changes, some people may also experience neurological problems, such as difficulties with brain function, and ocular problems, such as vision difficulties or changes to the eyes.
If individuals notice any such changes, it is critical to seek medical attention as soon as possible. Early diagnosis can improve the chances of better treatment outcomes. It’s equally important to follow the treatment plan assigned by the doctor diligently. This committed approach towards treatment can prevent further changes in the face’s shape, stopping the progression of any disfigurement.
Thanks to recent advancements in medical practices, there’s hope for patients. Early diagnosis and treatment can even allow for improvements in physical appearance, creating better cosmetic results for patients battling PRS.
