What are the clinical manifestations of Parry Romberg Syndrome?

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What is Parry Romberg Syndrome?

Parry Romberg Syndrome is also referred to as progressive facial hemiatrophy or facial hemiatrophy or Romberg syndrome or hemifacial microstomia. It is a type of syndrome that is clinically and etiologically heterogeneous. It follows an autosomal dominant type of inheritance pattern. It basically affects the muscle, dermis, subcutaneous fat, including an underlying bone although; it rarely involves either an ipsilateral or the contralateral side of the face. In general, Parry-Romberg syndrome is a rare disorder that presents with the slow, progressive deterioration (atrophy) of the skin and half of the soft tissues of the left side of the face (hemifacial atrophy). It commonly affects the females compared to males.

http://www.youtube.com/watch?v=raBU_s59Vj4

Define Parry Romberg Syndrome

It is defined as follows:

Parry-Romberg syndrome (also known as progressive hemifacial atrophy) is a rare neurocutaneous syndrome characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body.

What are the other names for the Parry Romberg Syndrome?

The other names for Parry Romberg Syndrome include:

Romberg syndrome

PRS

Hemifacial microstomia

HFA

Progressive hemifacial atrophy

Progressive facial hemiatrophy

What causes Parry Romberg Syndrome?

Parry-Romberg syndrome is a rare disorder that presents with the gradually, progressing skin degeneration (atrophy) including the soft tissues of the left side of the face (hemifacial atrophy). According to the research studies, it is caused mainly by a type of autoimmune disorder. It has also been demonstrated that the Parry Romberg Syndrome is preceded by the presence of antinuclear antibodies in the serum of affected patients.

Moreover, it has also been reported that it occurs due to familial inheritance. However, some of the researchers refute that according to a clinical study conducted on monozygotic twins, one among the two was affected by the condition. Meanwhile, various other theories have provided an evidence of cell mediated inflammatory process in the blood vessels, conditions including cranial neural crest disorders, trigeminal neuritis, viral or borrelia infection including changes in the sympathetic nervous system contribute to an etiological causes for the occurrence of the condition.

What are the Signs and Symptoms of Parry Romberg Syndrome?

The onset of the Parry Romberg syndrome usually starts from between the age group of 5 and 15 years. The phase of atrophy progression generally lasts from 2 to 10 years followed by the process of stable phase. The syndrome is characterized with the atrophy of the facial muscles, especially on the left side of the face in addition to progressive bone loss of the facial bones. It can surround the eye thus involving the optic nerve and retina on progression.

http://www.youtube.com/watch?v=O_zYrBUP30M

First of all, the initial changes of PRS include alteration in facial muscles, mainly involving the tissues above the upper jaw (maxilla) or the upper corner of the lip (nasolabial fold) or between the nose. Subsequently, it progresses to the parts around the eye, angle of the mouth, the ear, the brow, and the neck. The progressive deterioration can also involve the soft tissues including the tongue, or the gums or soft tissue part of the roof of the mouth. The facial hair turns whiter with an eventual hair fall (alopecia) while the affected side of the eye and cheek become sunken. To be more specific, the skin around the affected part of the skin presents with a characteristic, dark pigmentation (hyperpigmentation). Some of the patients present with patches of un-pigmented skin (vitiligo) in addition to areas of hyperpigmentation. Parry-Romberg syndrome is also associated with neurological abnormalities such as episodes of severe facial pain (trigeminal neuralgia) and seizures.

Some of the characteristic clinical features associated with the Parry Romberg syndrome are as follows:

Migraine, Facial pain, Hemianopia, Focal seizures, Hemiparesis, Cognitive impairment, Vomiting, Nausea, Enopthalmos, Refractive error, Heterochromia iridis, Hemifacial atrophy, disturbed electrical signals accompanied with fast muscle spasm, Hemiatrophy of tongue and salivary gland, Achromia of the hair (lack of normally pigmented hair or lack of normal hair color), Coup de sabre (lesions or scarring) of the linear area of the scleroderma affected scalp or forehead, presence of a characteristic strike that appears like a sword, Hyperchromia of hair (over-pigmented hair), Gaunt face, Telangiectatic nevus (skin condition characterized by the dark pink, flat, localized areas of dilated capillaries), white or absent hair, wrinkled or thin skin, facial paresthesias, Atrophic sebaceous gland, Underdeveloped base of the skull, contralateral Jacksonian epilepsy, Hemiarthrophy of the lips, abnormally small facial bone, Vitiligo (characteristic dark and light patches on skin), absence of zygomatic bone, abnormal functioning nervous system, Aplasia or Hypoplasia or absence or incompletely developed external ear, and delayed teeth eruption on the affected side.

Women with complications of Parry Romberg syndrome on head

What are the complications of Parry Romberg syndrome?

Some of the complications of the Parry Romberg Syndrome include:

Iritis

Keratitis

Facial palsy

Optic nerve atrophy

Neurological complications including epilepsy

Trigeminal neuralgia

Psychiatric complications

References:

http://en.wikipedia.org/wiki/Parry%E2%80%93Romberg_syndrome

http://www.medicinenet.com/parry-romberg_syndrome/article.htm

http://children.webmd.com/parry-romberg-syndrome

http://syndromespedia.com/parry-romberg-syndrome.html

http://www.medicinenet.com/parry-romberg_syndrome/page2.htm

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Author: Dr Chaitra S

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