What is Parry-Romberg syndrome?

Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. It is more common in females than in males. Initial facial changes usually involve the tissues above the upper jaw (maxilla) or between the nose and the upper corner of the lip (nasolabial fold) and subsequently progress to the angle of the mouth, areas around the eye, the brow, the ear, and the neck. The deterioration may also affect the tongue, the soft and fleshy part of the roof of the mouth, and the gums. The eye and cheek of the affected side may become sunken and facial hair may turn white and fall out (alopecia). In addition, the skin overlying affected areas may become darkly pigmented (hyperpigmentation) with, in some cases, areas of hyperpigmentation and patches of unpigmented skin (vitiligo). Parry-Romberg syndrome is also accompanied by neurological abnormalities including seizures and episodes of severe facial pain (trigeminal neuralgia). The onset of the disease usually begins between the ages of 5 and 15 years. The progression of the atrophy often lasts from 2 to 10 years, and then the process seems to enter a stable phase. Muscles in the face may atrophy and there may be bone loss in the facial bones. Problems with the retina and optic nerve may occur when the disease surrounds the eye.

Is there any treatment?

There is no cure and there are no treatments that can stop the progression of Parry-Romberg syndrome. Reconstructive or microvascular surgery may be needed to repair wasted tissue. The timing of surgical intervention is generally agreed to be the best following exhaustion of the disease course and completion of facial growth. Most surgeons will recommend a waiting period of one or two years before proceeding with reconstruction. Muscle or bone grafts may also be helpful. Other treatment is symptomatic and supportive.

What is the prognosis?

The prognosis for individuals with Parry-Romberg syndrome varies. In some cases, the atrophy ends before the entire face is affected. In mild cases, the disorder usually causes no disability other than cosmetic effects.

• inflammation of the brain (encephalitis) or blood vessels (vasculitis)
• trauma
• scleroderma
• migraine headaches
• infections (such as Lyme disease and herpes infections)
• abnormalities of the way the body processes fat (fat metabolism)
• blood vessel disorders in the brain (cranial vascular malformations)
• noncancerous (benign) tumors.

The first signs of progressive hemifacial atrophy usually are skin changes similar to those in localized scleroderma. It is more commonly seen in women and it usually affects the left side of the face more than the right side. Not everyone will have all of the possible symptoms, and the symptoms may range from mild to severe. In general, if the disease start later in life the atrophy is less severe because facial growth is almost complete in the second decade of life. Signs and symptoms may include:

• Characteristic thinning or shrinkage (atrophy) of the various tissues of one side of the face, mainly involving fat tissue, but that can include skin, connective tissues, muscle, and sometimes, bone, with can result in a mild unnoticed asymmetry, or that can be very severe and cause disfigurement of the face
• Eye problems (in around 10-35% of cases) including changes to the eyelid and eye socket, where the eyeball may appear to sink into the eye socket (enophthalmos) as the supporting tissue atrophies. Other problems may include corneal and retinal changes, or may involve the optic nerve, or the muscle of the eyes
• Neurological complications occur in 45% of cases, and may include seizures, migraine headaches, hair loss, facial nerve pain (trigeminal neuralgia)
• Darkening of skin (hyperpigmentation)
• Teeth changes (in about 50% of the cases) which result in a deviation of nose and mouth to the affected side, and teeth exposure
• Tongue atrophy
• Very rarely there is also lost of fat tissue in the same side of the body where the face is affected, including arms, legs and thorax.

According to the severity of the disease, there are three types of progressive hemifacial atrophy:

• Type I, is the most common and involves a localized area in the face affecting only the superficial layer of the skin (epidermal layer) that follows the distribution of the fifth cranial nerve (trigeminal nerve)
• Type II, is more severe compared with type I
• Type III affects both sides of the face including all soft and underlying bone (the less frequent).

Currently there is no treatment to stop the progression of progressive hemifacial atrophy, but various treatments have been tried. Because it is very similar to linear scleroderma treatment is also similar, and may include:

• Antimalarials
• Methotrexate
• Local or systemic steroids
• Tetracycline
• Cyclophosphamide
• Non-cosmetic skin softeners (emollients)
• Vitamin D3 analogues
• Treatment with drugs that become active when exposed to ultraviolet light (phototherapy), for example PUVA (Psoralen plus ultraviolet A)

Hemicranial pain syndrome (can be in form of migraine or continuous severe headache, but on one side of the head) has been treated successfully by repetitive local botulinum toxin A injections. Treatment of the eye and nerve involvement may include the use of some medications, such as steroids, and surgical procedures, depending on the specific problem.

Progressive hemifacial atrophy stops progressing on its own within 2 to 20 years, which makes it hard to decide if a therapy is successful. After the condition does stabilize, reconstructive surgery can be done to restore the fat tissue that is lost with the disease and, therefore, recover the natural shape of the face, and treat the sunken eye (enophthalmos) and the eyelid retraction.

The following techniques are options for surgical reconstruction:

• Silicone implants
• Muscle flap grafts
• Fat grafts with or without stem cells
• Bone and cartilage grafts
• Injections to fill in hollows below the skin such as hyaluronic injection, which may be also improve the enophthalmos and eyelid retraction.

Since multiple systems of the body may be affected, a multidisciplinary team of physicians, surgeons, dentists, and psychologists may be needed to manage the different symptoms.

Progressive hemifacial atrophy is a slowly progressive, self-limiting condition. However, the type and severity of symptoms varies greatly. The length of time the disease progresses before it reaches stabilization also varies greatly.

While most sources state the course of the disease will stabilize in 2-10 years, the most recent review suggests 2-20 years. The condition may be less severe when it begins in adulthood than in younger ages, probably due to the complete development of craniofacial and nervous structures. To our knowledge, recurrence in the same person after the condition has stabilized has not been reported in the medical literature.

Progressive hemifacial atrophy can have a significant psychological and social impact on a person, depending on the severity, progression, age of onset, and success of cosmetic repair.