Friday, 11 March 2016

Parry Romberg Syndrome

Parry Romberg syndrome is a very rare disorder, more common in women than men. It is characterised by progressive deterioration of the facial tissue (hemi-facial atrophy), particularly the left-side, and in severe cases bones. If limbs are affected, it is commonly on the same side as the facial atrophy.

The deterioration begins between the nose and upper lip. This then slowly progresses across the face, and may even affect the roof of the mouth, tongue and gums. Tissue beneath the skin (subcutaneous) and fat shrink, which characterises the atrophy. As a result, sufferers show a sunken appearance in these areas. Due to the extensiveness of the areas affected, a number of conditions can occur. This includes: alopecia, facial pain and seizures due to neurological abnormalities. Of course, the severity of the symptoms vary, with the majority of sufferers experiencing mild deterioration.
Child with facial atrophy on his right side
Atrophy lasts from 2 to 10 years, after which it enters a stable phase. Parry Romberg syndrome can arise both in adulthood and late childhood, although the majority of sufferers have symptoms before the age of 20. Often, the earlier the deterioration begins, the quicker it progresses. 

At the moment, Parry Romberg Syndrome is incurable and untreatable. This is largely because the cause of this disorder is unknown, as the syndrome appears to happen sporadically. However, reconstruction surgery is available, to repair facial tissue.

There are a few theories for the causes of this syndrome. It must be considered that Parry Romberg syndrome may be due to a somatic mutation. This is where a mutation occurs in one of the cells in a zygote, at the very early stage of fertilisation. Thus, cells that had divided from this one cell, will carry the mutation. Furthermore, this 'somatic mutation' hypothesis agrees with the idea that Parry Romberg is not inheritable, which may increase the theory's credibility.


However, a more popular theory for its cause suggests that it is due to an autoimmune reaction, where the body perceives healthy tissue as foreign, thus attacks it with antibodies. In this case, since the antibodies are attacking healthy tissue, they have coined the term autoantibodies. This unusual response may be triggered by an inflammation of the nerves that produce skin and fat.


References:


Medicinenetcom. (2016). MedicineNet. Retrieved 10 March, 2016, from http://www.medicinenet.com/parry-romberg_syndrome/article.htm


Nihgov. (2016). Nihgov. Retrieved 10 March, 2016, from http://www.ninds.nih.gov/disorders/parry_romberg/parry_romberg.htm


Rarediseasesorg. (2016). NORD (National Organization for Rare Disorders). Retrieved 09 March, 2016, from https://rarediseases.org/rare-diseases/parry-romberg-syndrome/

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