Introduction

A very rare disorder characterised by one side of the face displaying the slow and progressive wasting of skin, facial tissue and sometimes even bone, is known as Parry-Romberg Syndrome (PRS). PRS is a condition which can occur in either early or later life (childhood or adulthood), and thus the clinical presentations, progression, and outcomes of the disease also differ in childhood compared to adulthood onset. It is important to gain a good understanding of the differences in these aspects as early as possible, as this can allow for a timely diagnosis and early intervention, management, and support. Early interventions and management plans increase the possibilities of positive outcomes for those diagnosed with PRS.

Overview of parry-romberg syndrome

The underlying causes of PRS are still unknown. However, it is suspected that the mechanisms involved can be grouped into three categories: inflammatory, neurological and autoimmune. Given that these mechanisms are suspected in the aetiology of PRS, the following features have been associated with the condition:¹

• Seizures
• Migraines
• Eye (ocular) involvement
• Trigeminal neuralgia, which is a severe and sudden facial pain, usually on one side of the face and feels like an electric shock

In addition to the medical challenges that individuals diagnosed with PRS face, their quality of life can also suffer as the condition can negatively affect psychological, functional, and cosmetic aspects.

Onset in childhood

PRS is typically a condition with an onset age between 5 years and 15 years. The more common presentation of PRS that displays itself in childhood is often a more aggressive and rapidly progressive disease than adult-onset PRS cases.²

In early onset PRS, there is an earlier involvement of the skin and soft tissue within the face,  which can sometimes extend to the bone, forming abnormalities. In early development, this can lead to dental abnormalities. This earlier onset during early development also increases the likelihood of neurological complications, such as epilepsy (which can cause seizures) and white matter brain lesions (which can show a disruption in blood flow to the brain or a disruption in normal brain connectivity).³ Early developmental changes caused by PRS can also have a significant negative psychological impact on children diagnosed with PRS due to the clear and visible facial changes that can occur during their early years.

Onset in adulthood

The adult onset of PRS is less common, but when it does occur, it typically presents within the individual's 20s or 30s. Compared to the childhood-onset of PRS, adult manifestation is often milder in severity and slower in progression. Due to the later onset, bone abnormalities and severe facial asymmetry are less likely to occur. Similarly, neurological complications are reported less frequently. Similar to children with PRS, psychological, specifically psychosocial, distress may be experienced in relation to social interaction or self-image, and may be even more distressing for adults than it can be for younger children.⁴

Differences in progression

One of the main differences in childhood-onset and adulthood-onset PRS is the speed at which the disease progresses. For individuals where PRS presents in childhood, the progression is often at a more rapid pace, which eventually stabilises after several years. For individuals where PRS presents in adulthood, there is typically a slower disease progression and less severe symptoms.^5-7 Additionally, the earlier the onset of PRS, the more severe the structural and neurological changes. The similarity across both age groups is that when the progression of disease stops – called the “burnt-out” phase – the physical deformities and other associated complications will also remain.⁸

Management approaches

Unfortunately, there is currently no known cure for PRS, regardless of the age of onset. This means that treatment or management is purely supportive.⁹

Although there is no definitive treatment for PRS, there are two main categories of supportive management:²

• Immunosuppressive therapy: this may be a management option during the phase of active progression of PRS to slow down tissue loss
• Surgery: reconstructive surgery, such as bone grafting, flap procedures or fat grafting, may be a management option during the phase of stabilisation of PRS to assist with cosmetics and practical structural aspects

One of the main differences between management options for children compared to adults with PRS is the timing of surgical intervention due to the fact that growth is still active in children. This means that for adults with PRS, they can have earlier surgical reconstructive interventions compared to children with PRS, who are likely to have their possibility of surgery delayed until their growth stabilises.

In addition to management options, multidisciplinary care is essential to the long-term care of individuals diagnosed with PRS. Health professionals specialised in neurology, dermatology, plastic surgery, and psychology are instrumental in ensuring optimal management throughout the life of a person with PRS.

Summary

There are differences in the presentation of Parry-Romberg Syndrome (PRS), which depend upon whether the PRS has a childhood-onset or adulthood-onset for the individual. If onset occurs within childhood, then PRS is likely to be more severe, with a faster disease progression and a higher risk of neurological complications. Adult-onset typically presents as a slower type and displays a milder disease progression. Both cases can benefit from therapeutic and surgical management options after disease stabilisation is confirmed to help improve aesthetics, function, and quality of life. Regardless of the differences in PRS dependent on the age of onset, both age groups benefit from early diagnosis, early management involving a multidisciplinary team, and psychological support.

Frequently asked questions (FAQ)

At what age does parry-romberg syndrome (PRS) most commonly begin?

The most common life stage for the onset of Parry-Romberg Syndrome is in childhood, between the ages of  5 and 15. Although rare, PRS can also present in adulthood at different ages, with documented cases from the 20s and older. 

Why is neurological involvement more common in childhood-onset cases?

Neurological involvement is more common when PRS is presented in childhood due to the involvement of the still-developing neurological system. The disruption to the development of the neurological process can result in epilepsy and white matter brain lesions.

When is reconstructive surgery recommended for children and adults?

The recommendation for reconstructive surgery varies between children and adults due to the factor of growth. Adults can have reconstructive surgery earlier than children, whose growth needs to stabilise before this management option is considered.