More Than My Face

The syndrome

Parry-Romberg Syndrome

What it is, what it does and what is known today. In plain language.

This page is information, not a medical consultation. If you recognise yourself in what is written here, speak to a doctor.

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.

For healthcare professionals

The Syndrome - For Professionals

Clinical summary of Parry-Romberg syndrome, aimed at healthcare professionals, based on available scientific literature.

Epidemiology:

Parry-Romberg syndrome (PRS), also known as progressive hemifacial atrophy, is a rare disease whose true incidence and prevalence remain unknown.

Some publications present prevalence estimates between 1 in 250 000 and 1 in 1 000 000 people, but these values should be interpreted with caution, due to the absence of robust epidemiological studies and the possibility of underdiagnosis.

The disease appears to affect the female sex more frequently and usually manifests during childhood or adolescence, although there are also cases of onset in adulthood.

Presentation is predominantly unilateral, and may affect either side of the face. Bilateral involvement is less frequent.

Pathophysiology:

The aetiology and pathophysiological mechanisms of Parry-Romberg syndrome remain incompletely understood.

Autoimmune, inflammatory, vascular and neurogenic hypotheses have been proposed. The clinical and histopathological association with linear scleroderma en coup de sabre suggests the possibility of shared pathophysiological mechanisms.

The disease is characterised by progressive atrophy of facial tissues, which may involve skin, subcutaneous adipose tissue, muscle, cartilage and bony structures.

In certain patients, neurological and ophthalmological manifestations and dental or maxillofacial changes may coexist.

There is currently no single, definitively proven pathophysiological mechanism that explains all manifestations of the disease.

Clinical and complementary assessment:

Diagnosis is predominantly clinical, based on the history of evolution, the pattern of facial atrophy and objective examination.

Assessment should consider:

  • Dermatological and craniofacial assessment: extent of atrophy, pigmentation changes, involvement of soft tissues and bony structures.
  • Neurological assessment: headaches, migraines, epileptic seizures, sensory changes, neuropathic pain, neurological deficits and other relevant symptoms.
  • Ophthalmological assessment: enophthalmos, eyelid changes, ocular inflammation and possible visual function changes.
  • Dental and maxillofacial assessment: mandibular and maxillary growth changes, dentoalveolar asymmetry, malocclusion and other functional consequences.

Cerebral magnetic resonance imaging may identify white matter changes, cerebral atrophy, inflammatory changes or other anomalies, particularly in patients with neurological manifestations.

The need for neuroimaging and other complementary examinations should be determined according to the clinical presentation and specialist assessment.

Laboratory tests, including inflammatory markers and autoantibodies, may be considered in selected contexts, but there are no specific biomarkers that confirm the diagnosis or independently determine syndrome activity.

Disease activity and stabilisation:

Clinical evolution is variable.

In many patients, atrophy progresses for several years before stabilising. In others, progression may be more prolonged or reactivation may occur after a period of stability.

Disease activity should be assessed through clinical evolution and, when indicated, comparison of standardised photographs, three-dimensional images and complementary examinations.

The appearance of new areas of atrophy or worsening of existing changes may suggest progression.

The absence of progression over a prolonged period is suggestive of stabilisation, but there is no universally validated temporal criterion that definitively confirms disease inactivity.

Treatment of active disease:

There is currently no cure nor universally established therapeutic protocol specifically for Parry-Romberg syndrome.

In certain cases of active or progressive disease, especially when there is association with linear scleroderma or inflammatory manifestations, immunomodulatory or immunosuppressive treatments may be considered.

Methotrexate, frequently associated with systemic corticosteroids, is among the treatments described in the literature.

Other medications, such as mycophenolate mofetil and certain biological agents, have been used in selected or refractory situations.

However, available evidence is limited, often being based on case series, observational studies and extrapolation of therapeutic strategies used in localised scleroderma.

Therapeutic decision should be individualised, considering disease activity, associated manifestations, treatment risks and assessment by specialist teams.

Craniofacial reconstruction and rehabilitation:

Craniofacial reconstruction can play an important role in restoring symmetry, correcting structural changes and improving function and quality of life.

Options include autologous fat grafts, vascularised tissue transfer, bone reconstruction and orthognathic or maxillofacial procedures.

Selection of technique depends on the extent of atrophy, affected structures, patient age, previous procedures and disease stability.

Traditionally, it is recommended that definitive reconstruction be considered after stabilisation of atrophic progression, although the ideal moment of intervention should be individualised.

Fat graft resorption, the need for additional procedures and variability of results should be considered in surgical planning.

Rehabilitation may equally include dental, orthodontic, ophthalmological, functional treatments and psychological support, according to individual needs.

Differential diagnosis:

Differential diagnosis depends on age of presentation, distribution of changes and presence of cutaneous, neurological or craniofacial manifestations.

Among the main conditions to consider are:

  • Linear scleroderma en coup de sabre, which may coexist or present clinical overlap with Parry-Romberg syndrome.
  • Hemifacial microsomia and oculo-auriculo-vertebral spectrum, including Goldenhar syndrome.
  • Congenital craniofacial asymmetries.
  • Localised lipodystrophies and other causes of facial adipose tissue loss.
  • Barraquer-Simons syndrome, when the pattern of adipose tissue loss justifies this hypothesis.
  • Other inflammatory, traumatic or acquired diseases that cause facial atrophy.

Rasmussen encephalitis may be relevant in the differential diagnosis of certain neurological manifestations, but does not constitute a usual cause of progressive hemifacial atrophy.

Multidisciplinary approach:

Parry-Romberg syndrome should be recognised as a disease with possible structural, functional, neurological, ophthalmological and psychosocial repercussions, and not merely as a change in facial appearance.

Depending on individual manifestations, follow-up may involve dermatology, rheumatology, neurology, ophthalmology, dentistry, maxillofacial surgery, plastic surgery and other specialities.

Early identification of complications, assessment of disease activity and continuity of care are fundamental for a person-centred approach.

Scientific references:

  1. National Organisation for Rare Disorders (NORD). Parry-Romberg Syndrome.
    Available at: https://rarediseases.org/rare-diseases/parry-romberg-syndrome/

  2. StatPearls — NCBI Bookshelf. Parry-Romberg Syndrome.
    Available at: https://www.ncbi.nlm.nih.gov/books/NBK574506/

  3. European Journal of Rheumatology. Linear Scleroderma of the Head — Updates in Management of Parry Romberg Syndrome and En Coup de Sabre: A Rapid Scoping Review Across Subspecialties.
    Available at: https://pubmed.ncbi.nlm.nih.gov/35929860/

  4. DermNet. Parry-Romberg Syndrome.
    Available at: https://dermnetnz.org/topics/parry-romberg-syndrome

  5. Radiology Case Reports (2024). Parry-Romberg Syndrome: A Case Report and Literature Review.
    Available at: https://www.sciencedirect.com/science/article/pii/S1930043324001444

These references are intended to support the information presented on this page. Consultation of the original publications and updated scientific sources is recommended, as knowledge about Parry-Romberg syndrome continues to evolve.

Important note — Nature and limits of the information presented:

The content of this page has an exclusively informative, educational and awareness-raising purpose regarding Parry-Romberg syndrome. It was prepared from scientific literature, medical publications and other available information sources, seeking to present existing knowledge about this rare disease in a clear, rigorous and accessible way.

More Than My Face is a personal project, created by someone who has lived with Parry-Romberg syndrome since childhood. Although the author is a nurse by profession and has acquired knowledge over decades of personal experience with this condition, she is not a doctor nor a specialist in Parry-Romberg syndrome or other rare diseases.

The information made available on this website does not constitute medical advice, clinical diagnosis, prescription, therapeutic recommendation or treatment protocol, nor does it substitute, under any circumstances, individualised medical assessment. Any person presenting symptoms, suspecting they have this disease, having doubts about their diagnosis or seeking clarification about examinations, medications, treatments or surgical interventions should consult a suitably qualified doctor, preferably with experience in rare diseases or the clinical manifestations in question. No health-related decision, including starting, changing or stopping treatments, should be taken exclusively based on the information presented on this website.

Healthcare professionals consulting this page should confirm the information through original scientific sources, updated clinical guidance and individual assessment of each patient.

Parry-Romberg syndrome is a rare and complex disease, whose scientific research continues to evolve. The information presented here may not reflect all the most recent knowledge or medical developments.

The purpose of More Than My Face is to inform, raise awareness and share knowledge and experiences, never to substitute assessment, follow-up or care provided by qualified healthcare professionals.

Contributions from healthcare professionals and researchers:

More Than My Face is a project open to knowledge sharing and continuous updating of scientific information. If you are a healthcare professional, researcher or specialist and have scientific evidence, publications, studies or relevant clinical knowledge about Parry-Romberg syndrome that may contribute to improving, complementing or correcting the information presented on this website, your contribution will be most welcome.

You may contact us through the 'Find us' section, indicating, whenever possible, the respective scientific sources. All contributions will be received with interest and considered in the light of available evidence, with the aim of promoting increasingly rigorous, updated and useful information for healthcare professionals, people living with this disease and their families.

Sources

Updated on 13 September 2026