Parry-Romberg Syndrome (Progressive Facial Hemiatrophy): Symptoms and Treatment

general information

Parry-Romberg Syndrome (progressive facial hemiatrophy) Is a rare acquired disease characterized by slowly progressive contraction (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy). In rare cases, both sides of the face are affected. In some people, the atrophy can also affect the limbs, usually on the same side of the body as the facial atrophy.

The severity and specific symptoms of Parry-Romberg syndrome vary greatly from one person to the next. Some people may develop additional symptoms, including neurological disorders or disorders affecting the eyes or teeth. Progressive facial hemiatrophy usually appears during the first decade of life or early in the second decade, but develops into adulthood. Most people with the syndrome experience symptoms before the age of 20.

Signs and symptoms

The symptoms, progression, and severity of Parry-Romberg syndrome vary greatly from one person to the next, and range from mild to severe. It is important to note that affected individuals will not have all of the symptoms described below. People with milder symptoms are much more common than severely affected people. Affected people should talk to their doctor about their specific case and associated symptoms.

A characteristic symptom Parry-Romberg syndrome is the thinning or diminution (atrophy) of various tissues of the face, including fat, skin, connective tissue, muscle and, in some people, bone. The degree of atrophy can vary widely: from minor, barely noticeable changes to significant asymmetry, in which one side of the face looks "sunken". The progression of atrophic changes can also vary. Facial atrophy may progress slowly over many years, or more often progress slowly over several years before stopping. If atrophy stops progressing, it can sometimes recur at a later age, but this is rare. In other people, atrophy can progress indefinitely. In some people, when the disease begins at an early age, the progression seems to accelerate faster than when it begins at a later age.

Initial facial changesassociated with progressive facial hemiatrophy usually occur near the midface, for example, in the cheek area above the upper jawbone (upper jaw) or between the nose and upper corner of the lip. As the disease continues, the upper part of the face (for example, the area around the eye, eyebrow, and ear), as well as the corner of the mouth and the lower jaw, are usually affected. In some cases, half of the chin may also be involved. The affected areas undergo tissue atrophy under the skin (subcutaneous tissue), the layer of fat under the skin (subcutaneous fat), and sometimes the underlying cartilage, muscles and bones. Areas affected by such changes may have an abnormally recessed appearance.

In some people, a "line" may form in an area where atrophic changes on one side of the face meet with normal, intact skin on the other side of the face. In some cases, this "line" can be very clear and run vertically or diagonally down the forehead. Abnormal skin thickens and hardens (hardens).

Progressive atrophic changes associated with Parry-Romberg syndrome are rare, but can also cause ear abnormalities. In people with this condition, the ear on the affected side may become misshapen and unusually small and appear to protrude abnormally due to loss of supporting tissue.

In some people, perhaps one in five, the atrophic changes associated with the disease may progress, affecting arm, torso and legs on one side of the body, or on the same side as atrophic changes on the face or the opposite side.

In addition, many affected individuals also experience abnormal changes affecting the hair on the affected side, including including the development of abnormal bald patches on the scalp (alopecia), lack of eyelashes and absence of the middle part of the eyebrow, and / or whitening hair. In some people, these hair changes may occur before other disorders associated with the disorder.

Some people with Parry-Romberg syndrome can develop disorders that affect the mouth and teeth. Some people develop atrophy of half of the upper lip and / or one side of the tongue. In addition, due to progressive atrophic changes associated with the disorder, areas of the mandible may be unusually short on the affected side, and the jaw may be prone to spontaneous fracture. Some sufferers may have difficulty opening or closing their jaws. Involuntary contractions of the muscles used during chewing (hemi-chewing spasm or trismus) may occur. One side of the upper lip may have an unusually curled or raised appearance, and some teeth may be abnormally exposed, erupt unusually late, and / or have atrophic roots. In addition, the upper and lower teeth may have an irregular bite.

Some sufferers may also experience various neurological symptoms. Migraine headaches (severe headaches with visual symptoms, sensitivity to light, nausea and vomiting) are common in the general population, but may be even more common in people with Parry syndrome Romberg. People with the disease may have longer migraines with associated pupillary abnormalities (black part of the eye). Less commonly, perhaps one in ten people with Parry-Romberg syndrome may experience episodes of uncontrolled electrical disturbances in the brain (epileptic seizures). In these people, seizures are usually characterized by abrupt movements of muscles on the side of the body unaffected by hemifacial atrophy. These seizures, called contralateral focal seizures, are characterized by rapid, jerky muscle movements that can spread up or down the limb.

Additional neurological symptomsthat may occur include abnormal sensations (such as a tingling or burning sensation called paresthesia) in the face and / or episodes severe facial pain delivered by the fifth cranial nerve (trigeminal nerve), including the mouth, cheek, nose, and / or other areas (trigeminal neuralgia nerve). Sometimes, Parry-Romberg syndrome has a spasm of the jaw (trismus), usually on the same side as the hemiatrophy.

People with Parry-Romberg syndrome may also experience some additional skin (dermatological) disordersincluding abnormal darkening or discoloration of the skin covering the affected areas (hyper- and hypopigmentation). These changes in skin pigment may precede atrophic symptoms in some cases. Rarely, areas of skin on the arms, legs, and / or trunk may have similar pigmentation disorders. Some affected people have a condition called vitiligo, skin diseasein which the loss of color (pigmentation) of areas of the skin leads to the appearance of abnormal white spots.

Those affected may also develop some ocular (ophthalmic) disorders. Loss of fat lining the cavity that houses the eye (orbit) and loss of bone from the orbit can cause the eye to have an abnormally sunken appearance (enophthalmos). Additional ocular symptoms include a displacement of the eyeball farther back into the orbit than usual, drooping of the upper eyelid (ptosis), multicolored eyes (heterochromia), and inflammation of the uvea (uveitis) - the iris and the middle part of the eye.

Progressive facial hemiatrophy can be associated with anxiety and depression due to its effect on facial appearance. While it may be an autoimmune disorder, it is unclear if people with this disorder are more prone to others. autoimmune diseases.

Causes and risk factors

The cause of Parry-Romberg syndrome is unknown and appears to occur by chance for unknown reasons (sporadically). Various theories have been proposed to explain the development of the disorder, including:

• abnormal development or inflammation of the sympathetic nervous system;
• viral infections;
• inflammation of the brain and the membranes (meninges) that cover the brain (meningoencephalitis)
• trauma;
• abnormalities in the formation of blood vessels (angiogenesis);
• autoimmune processes.

One specific theory is that inflammation in the nerves that supply skin and fat triggers an autoimmune response. Autoimmune disorders occur when the body's immune system mistakenly attacks healthy tissue. The immune system produces specialized proteins called antibodies that destroy foreign substances (such as bacteria, viruses, toxins). When antibodies react against healthy tissue, they are known as autoantibodies. There is some evidence from various sources that autoimmune inflammation occurs in Parry-Romberg syndrome, but it is not known if this is the underlying cause.

Some people with a history of progressive facial hemiatrophy have a history of facial or head trauma. However, since many people with progressive facial hemiatrophy also do not have a history of trauma, this may be a coincidence. More research is needed to determine what role, if any, this injury plays in the development of the syndrome.

Rarely, some people with the disease have had relatives with the same disease. However, there is no specific evidence that a genetic component plays a role in the development of Parry-Romberg syndrome. There is also no evidence that it can be passed on to children.

In other types of studies involving soft tissue and sometimes the nervous system, recent studies have highlighted the role of "somatic mutation" of genes in the onset of disease. An example of this is Sturge-Weber syndrome. Somatic mutations are genetic problems that occur very early in development after of how the sperm fertilizes the egg, but when the developing person is still a "ball cells ". At this very early stage, one of these cells can develop a spontaneous genetic mutation, which then leads to problems in the cells. It is not known whether Parry-Romberg syndrome is caused by a somatic mutation, but this is another hypothesis.

More research is needed to determine the specific cause (s) of Parry-Romberg syndrome. It is possible that the cause in one person may be different from the cause in another, and the development of the disorder may require many different factors that come together.

Affected populations

Progressive facial hemiatrophy is a rare condition. The true incidence is unknown. Because the disorder often goes undiagnosed or misdiagnosed, it is difficult to determine the true incidence of Parry-Romberg syndrome in the general population.

Doctors studying the disorder have estimated that 1 in 250,000 people in the general population may be affected. Parry-Romberg syndrome appears to affect women somewhat more often than men, but proper research is lacking.

Parry-Romberg syndrome usually appears during the first or early second decade of life, with most affected people showing symptoms before the age of 20. However, the disorder has been identified in both infants and those over 50.

Parry-Romberg syndrome was originally described in the medical literature in 1825 (Caleb Hillier Parry) and 1846 (Moritz Heinrich Romberg). There are unconfirmed reports of worsening of the disease in some pregnant women during pregnancy or shortly after giving birth.

Diagnostics

The diagnosis of progressive facial hemiatrophy is based on the identification of characteristic symptoms, a detailed medical history, careful clinical evaluation, and various specialized tests. The specific tests that are used depend on which symptoms are present and which signs appear first.

For example, magnetic resonance imaging (MRI) can be used in people with neurological symptoms. MRI uses a magnetic field and radio waves to produce cross-sectional images of individual organs and tissues in the body.

Surgical removal and microscopic examination (biopsy) of the affected skin tissue can be used in people with linear scleroderma.

Parry-Romberg Syndrome Treatment

Treatment for Parry-Romberg syndrome focuses on the specific symptoms that each person experiences. Treatment may require the coordinated efforts of a team of specialists. Pediatricians or therapists, surgeons (especially plastic surgeons), dentists, ophthalmologists, dermatologists, neurologists and / or other healthcare professionals may need systematic and comprehensive treatment planning victim. For example, migraine, epilepsy or uveitis can be treated in the same way as any other situation.

Various surgical techniques are used to improve the cosmetic appearance in affected individuals. The success rates for these surgical procedures are highly variable. Surgical treatment is usually not recommended until atrophic changes have ceased and the degree of facial deformity that occurs is known. Some doctors advise those with Parry-Romberg syndrome to postpone any surgical procedures until the skull and face are fully developed and the symptoms disappear, at least for year.

Surgical methods used to treat people with Parry-Romberg syndrome include fat or silicone injections, bone implants. These treatments can be effective in achieving cosmetic enhancement. It should be noted, however, that fat injections can be reabsorbed when administered during the active phase of the disease.

In some cases, additional measures can help treat some of the pathologies that result from the disease. Associated dental abnormalities can be treated with complementary surgical and / or other corrective techniques. Additional surgical, corrective, and / or supportive measures can help improve vision problems resulting from hemifacial atrophy. Treatment with anticonvulsant drug therapy can help prevent, reduce, or control seizures potentially associated with the disorder. In addition, patients with trigeminal neuralgia may benefit from certain medications and / or surgery in some cases.