What is Parry Romberg Syndrome?
In This Article
Parry Romberg Syndrome is otherwise termed as facial hemiatrophy or progressive facial hemiatrophy or hemifacial microstomia or Romberg syndrome. It is an etiologically and clinically heterogeneous kind of syndrome. It involves the subcutaneous fat, dermis, muscle and the bone underlying it. It is rarely involves the Contralateral or ipsilateral side of the person’s face.
This ipsilateral dilation can be seen in studies of cranial imaging examination. While other experts define it as a rare kind of disorder that has a characteristic of a slow progression of the atrophy or wasting of the person’s soft tissue which is located half portion of the face or the so called hemifacial atrophy which is commonly the left area of the face.
Other experts would define it as a disorder that is uncommon and that has a characteristic of skin hyperpigmentation. It is accompanied by abnormalities by the neurological area which includes episodes of severe pain in the facial region and seizures.
It can be classified with the syndromes of the neurocutaneous system. The onset usually begins at around the age 5 to 15 years of age. The progression last often from 2 to 10 years. It is commonly reported in women than in men. It also is known to burn out in a few years but will have a bigger chance to leave asymmetrical facial features which may be difficult to cure.
The first person, who describes the Parry Romberg Syndrome, in the year 1815, was Caleb Parry who was an English Physician. The description was elaborated thoroughly by Moritz Romberg during the year 1846. The first one who used the descriptive syndrome was Albert Eulenburg, who was a German neurologist during the year 1871.
Parry Romberg Syndrome Symptoms, Signs
Persons who have a diagnosis of Parry Romberg syndrome have the following clinical features:
- Facial pain
- Focal seizures
- Cognitive impairment
- Heterochromia iridis
- Refractive error
- Hemiatrophy of salivary gland and tongue
- Electrical disturbances which have a characteristic of fast muscle spasm
- Hemifacial atrophy
- Coup de sabre or the lesions or scar of the linear area of the scleroderma on the person’s scalp and forehead or strike of the sword kind of appearance
- Achromia of the hair or the lacking of pigmentation or normal color of the person’s hair
- Hyperchromia of hair or an increase in the pigmentation of the person’s hair
- Telangiectatic nevus which is a skin condition that has a characteristic of deep pink, flat localized areas of dilation of the capillaries
- Gaunt face
- Wrinkled and thin skin
- White or absent hair
- Atrophic sebaceous gland
- Facial Paresthesias
- Contralateral Jacksonian epilepsy
- Underdevelopment of the skull’s base
- Facial Bone is small
- Hemiarthrophy of the lips
- Absent malar bone
- Vitiligo or the person’s skin having dark and light patches
- Aplasia or absence or Hypoplasia or incomplete development of the person’s external ear
- Delayed eruption of the teeth on the person’s affected side
- Functioning of the nervous system is defective
Causes & Risk Factors
There are research studies that show that Parry Romberg Syndrome is caused by autoimmune kind of disorder. There are persons who have the Parry Romberg Syndrome have been found to posses antinuclear antibodies found in serum. It is known to be an autosomal dominant kind of inheritance pattern.
There are also reports of familial occurrences. There are other studies that show that in monozygotic kind of twins, it is only one of the said twins was positively known to be affected. Meanwhile, there are other theories that suggest that it is of cell mediated inflammatory process of the person’s blood vessels, trigeminal neuritis, cranial neural crest disorders, borrelia or viral infection or probably sympathetic nervous system alteration are the etiological cause of why person’s have this kind of syndrome.
Persons with Parry Romberg syndrome are diagnosed by the physician by conducting the following examinations:
- Medical history examination
- Physical examination
- MRI or magnetic resonance imaging scan of the brain
- CT scan
- Lumbar puncture
- Autoantibodies serum test or examination
The physicians usual treat Parry Romberg syndrome with the following therapies or treatment:
The physicians usually prescribe immunosuppressive drugs such as corticosteroids, azathioprine, methotrexate, and cyclosphosphamide. Other medications are given to treat symptoms like antiseizure and migraine pain relief.
Physicians, who have patients diagnosed with Parry Romberg syndrome, will suggest them to undergo surgeries such as microsurgical reconstructive surgical procedure which will help in restoring the normal facial contour. Meanwhile, persons who have the severe form of the syndrome which may need additional surgical procedures like cartilage grafts, othognathic surgery, bone grafts, bone distraction, and pedicled temporal fascia flaps. The best time for the surgical procedure usually depends on the preference of the physician. Some physician would prefer early surgical intervention and others would prefer to wait awhile prior to doing the surgical procedure.
Actually, there is no current cure that could stop the progressive Parry Romberg syndrome. Studies have shown that the disease will be periodically progressive and the treatment is directed towards symptomatic relief. There is also a need for follow up in a long term process for disorders which are regarding the somatic form and preventing the problems that regards the psychological aspect.
The prognosis for persons with Parry Romberg Syndrome varies from one person to another. In some persons, the atrophy will end before the person’s entire face gets affected. Meanwhile, persons with milder cases, there is no need to be alarmed because there is only cosmetic disability.
Complications that would fall under the Parry Romberg Syndrome include:
- Optic nerve atrophy
- Facial palsy
- Trigeminal neuralgia
- Neurological complications such as epilepsy
- Psychiatric complications
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