Parry-Romberg Syndrome

Parry-Romberg SyndromeParry-Romberg Syndrome or progressive facial hemiatrophy is a rare acquired neurologic disorder that is characterized by the atrophy of the half of the face and seldom of the both sides of the face.

Description


Parry-Romberg syndrome involves the shrinkage and degeneration (atrophy) of the subcutaneous tissues on the one side of the face and occasionally the other parts of the body on the same side. In about 5-10% of the cases the both sides of the face get involved. Usually the condition affects females at the age of 5-15 years and has never been reported to occur in adulthood.

Causes


The researchers are still trying to figure out the causes of the condition, although the autoimmune mechanism (even the connection with the localized scleroderma) was proposed.  The possible association with the sympathectomy was suggested. It was proposed that a disturbance of fat metabolism in the nervous system. Some scientists found the connection of the condition with the trauma, viral infections, heredity and endocrine disturbances.


Risk factors


Parry-Romberg Syndrome is associated with the autoimmune disorders and especially scleroderma.

[See also: Foreign accent syndrome (FAS)]

Symptoms

Severity of the syndrome varies from person to person and can be from mild to severe. The first symptoms of the disorder affect the area of the tissues around the temporal or buccinators muscles. The progression of the disease involves the atrophy of the skin and connective tissues underneath including fat, fascia, cartilage and bones and the muscles themselves and last from 2 to 10 years. After that the disease enters into the stable period (abruptly ceasing). The early manifestation of the atrophy associates with the deterioration of the bones and formation of the skull defects.  

Typically the areas between the nose and the upper corner of the lip, the maxilla, the angle of the mouth and the neck are affected. If the disease involves the tissues around the eye and the eyebrow, the retina and optic nerve may also be damaged. The spread of the atrophy over the face may affect the oral cavity, the tongue and the gums. The check on the affected side sinks, the facial hair whiten (blanching) and fall out causing alopecia. The skin of the affected area becomes pigmented (hyperpigmentation) and sometimes the patches of depigmentation (vitiligo) occur.  The lines of the face are curved, because the nose and the mouth are deviated to the affected side.
In some people, a “line” between the abnormal tissues and the normal part of the face may form. Sometimes this “line” may be very distinct and runs down the forehead. The affected skin is thickened and hardened (sclerosis). This condition is called linear scleroderma “en coup de sabre” (LSCS) (from the French for ‘sabre cut’). It is unknown whether LSCS is a discrete disorder itself or the same disease as the Parry-Romberg syndrome.

45% of the affected people develop trigeminal neuralgia (intense pain in the tissues innervated by the trigeminal nerve) and migraine. Sometimes occur the spasms of the jaws (trismus) on the side of the atrophy.
10% of the affected person suffers from seizures that are Jacksonian in nature and involve the muscles of the contralateral side.
The loss of the tissues around the orbit of the eye leads to the recession of the eyeball called enophtalmos. Enophtalmos is one of the core signs of the Horner’s syndrome. Other symptoms of Horner’s syndrome include ptosis (drooping of the eyelid), miosis (constriction of the pupil) and anhidrosis (decreased sweating). All of these signs appear on the affected side of the face.
The ocular symptoms may also include uveitis, heterochromia of the iris and strabismus.

The half of the patients develop dental abnormalities (resorption of the dental roots, eruption etc).

Diagnosis

CT/MRI of the brain may show atrophy on one side of the face and the scalp,

cerebral microhemorrhages, parenchymal calcification and even intracranial aneurysms.

 

Treatment


No treatment is known to prevent the condition from the progression.
Medical assessment includes immunosuppressive drugs such as methotrexate, corticosteroids, cyclophosphamide, and azathioprine, although the effectiveness of such treatment hasn’t been studied.
Reconstructive and microvascular surgery are suggested to reconstruct the affected areas. Sometimes the use of muscle or bone grafts is needed.

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