Parry-Romberg Syndrome

Parry-Romberg syndrome is a rare disease in which the tissue on one side of the face slowly loses volume over a period of years. It almost always begins in childhood or adolescence, it progresses slowly, and at some point it stops. It is not contagious. You cannot catch it. It is not passed on to children.

In medical texts the full name is usually progressive hemifacial atrophy. It also appears as Romberg syndrome. They are all the same thing.

What happens

The loss of volume usually starts around the cheek and upper jaw and can spread to the forehead, the corner of the mouth and the lower jaw. It affects fat, skin and connective tissue. In some cases it reaches muscle and bone, and that is where the asymmetry becomes most marked.

It does not only change the shape of a face. There can be changes in skin pigmentation, loss of eyebrow or eyelash hair, a lock of hair that turns white, teeth that erupt late or with atrophic roots, a misaligned bite, atrophy of one half of the tongue or lip.

Roughly a quarter to two fifths of people also have eye involvement: the eye looks sunken because of orbital fat loss, a drooping eyelid, an iris of a different colour, internal inflammation. Between 15 and 20 per cent have neurological symptoms, mostly migraine, trigeminal neuralgia and, in about one in ten people, seizures. Up to half of patients show visible changes on brain MRI on the same side as the facial atrophy, even without complaints.

When it starts and how long it lasts

Typical onset is between the ages of 8 and 18. Eight to nine in ten cases begin before 20. It appears more often in women, at a ratio of two to three to one, and the left side is the more commonly affected, in 60 to 75 per cent of cases.

The active phase, when the face is still changing, can last from two to twenty years. In the literature the average is around seven years when it starts in childhood and close to five when it starts in adulthood. Then it stabilises. That stabilisation matters a great deal, because it is what opens the door to reconstructive surgery.

What is known about the cause

Not enough. Nine theories carry weight in the literature, and the one with the strongest support is autoimmune: the immune system attacks the patient's own tissue, with lymphocytic infiltration of the dermis and around blood vessels. Other explanations have been proposed, among them sympathetic nervous system disturbance, inflammation of blood vessels, previous trauma, and infections such as varicella-zoster virus or Borrelia burgdorferi.

What is reasonably well established in the negative: genetic testing has not found a causative variant, and there is no evidence of transmission to children. The disease occurs sporadically.

It overlaps in part with localised scleroderma, in particular the linear variant known as en coup de sabre, which leaves a sclerotic band crossing the forehead. In European and North American series, Parry-Romberg syndrome accounts for 2 to 5 per cent of localised scleroderma cases.

How it is diagnosed

Diagnosis is clinical. It rests on the patient's history, the examination, and photographs compared over time. MRI characterises the extent of tissue loss and looks for brain changes. Blood tests may show positive antinuclear antibodies in 25 to 52 per cent of cases, and raised inflammatory markers during active phases. Skin biopsy is most useful when linear scleroderma is suspected.

Many people go years without a name for what they have. Hearing the wrong explanation before the right one is common.

What treatment exists

There is no cure. There are two fronts.

During the active phase the aim is to stop progression. Methotrexate is first-line treatment, in weekly doses, often with systemic corticosteroids in the first weeks to buy time. Multicentre studies report remission in 84 per cent of patients within six to nine months, with relapse below 20 per cent at three years. In resistant cases mycophenolate, azathioprine, hydroxychloroquine or biologics such as rituximab and tocilizumab are used.

Once the disease has been quiet for at least 12 to 24 months, reconstruction begins. The most common technique is autologous fat grafting, done in stages, with volume retention of around 65 to 75 per cent after two years. Where loss is greater, microsurgical free flaps are used, and where bone is involved, orthognathic surgery.

Associated symptoms are treated as they would be in anyone else: antiepileptics for seizures, migraine treatment, ophthalmology follow-up for uveitis.

What this is not

It is not contagious. It is not hereditary, as far as is known today. It is not a consequence of anything the patient did. It is not facial palsy: the muscles are thin, not weak. And it is not merely a cosmetic matter, although the effect on self-image and social life is real and is described in the literature as profound, particularly in children and adolescents.

If you recognise yourself in this

Speak to a doctor. Dermatology, rheumatology or neurology, depending on your symptoms. Take old photographs with you, spanning several years, because comparison over time is one of the most useful diagnostic tools there is.

And then, if you feel like it, write to me. There are few people with this, and even fewer who know each other.