Parry–Romberg syndrome

Overview

Parry–Romberg syndrome (PRS), also known as progressive hemifacial atrophy, is a rare neurocutaneous disorder characterized by the gradual wasting (atrophy) of the skin, soft tissues, and sometimes the underlying bone on one side of the face. This atrophy often becomes noticeable in childhood or adolescence and usually progresses slowly over several years before stabilizing. In many cases, PRS is associated with neurological symptoms such as migraines, seizures, or facial pain, and may overlap with linear scleroderma (en coup de sabre). While it is not a life-threatening condition, it can have significant cosmetic, psychological, and functional effects.

Causes

The exact cause of Parry–Romberg syndrome remains unknown, and it is likely multifactorial. Several theories have been proposed:

• Autoimmune mechanisms: Evidence suggests that PRS may be an autoimmune condition, with immune-mediated inflammation contributing to tissue atrophy.

• Neurogenic causes: Damage or dysfunction of the trigeminal nerve has been hypothesized to play a role in the development of facial atrophy.

• Genetic factors: Most cases are sporadic, but rare familial occurrences suggest a possible genetic predisposition.

• Vascular abnormalities: Localized disruptions in blood flow may contribute to tissue degeneration.

• Trauma or infection: Some cases are reported after facial trauma or viral infections, although a direct link has not been confirmed.

Symptoms

The hallmark feature of Parry–Romberg syndrome is unilateral facial atrophy, but the condition can involve multiple systems. Common symptoms include:

Facial and Dermatologic Symptoms

• Progressive atrophy of skin and soft tissue: Usually affects one side of the face (left side more commonly), including the cheek, lip, chin, and sometimes the forehead and scalp.

• Enophthalmos: Sunken appearance of the eye on the affected side due to loss of orbital fat.

• Facial asymmetry: Worsens over time and may lead to significant disfigurement.

• Skin changes: Hyperpigmentation, hypopigmentation, or induration resembling scleroderma may occur.

• Alopecia: Loss of hair on the affected side of the scalp or eyebrow.

Neurological Symptoms

• Seizures: Often focal and may be refractory to treatment.

• Migraines or severe headaches

• Trigeminal neuralgia: Intense, sharp facial pain

• Hemiparesis or weakness: In some cases, due to brain involvement.

Ocular and Dental Symptoms

• Strabismus or ptosis: Misalignment or drooping of the eyelid

• Dental asymmetry: Malocclusion, delayed tooth eruption, or atrophy of the jawbone

Other Features

• Overlap with linear scleroderma: In some individuals, a line of hardened skin resembling a scar may appear on the forehead (en coup de sabre).

• Psychological impact: Emotional and social distress due to visible facial differences.

Diagnosis

Diagnosis of Parry–Romberg syndrome is primarily clinical, based on the characteristic presentation of progressive facial atrophy. Supporting diagnostic tools include:

Clinical Evaluation

• Detailed medical and family history

• Physical examination of facial asymmetry, skin changes, and neurological signs

Imaging Studies

• Magnetic Resonance Imaging (MRI): To assess for brain involvement, white matter lesions, or cortical atrophy.

• CT scan: Can show bony asymmetry and atrophy of facial structures.

Laboratory Tests

• Autoimmune panels: To evaluate for underlying autoimmune processes or scleroderma-like changes.

• Blood tests: Often normal but may help rule out other conditions.

Other Evaluations

• Neurological assessment: For seizure evaluation or trigeminal nerve involvement.

• Ophthalmologic exam: If ocular symptoms are present.

• Dental evaluation: For bite alignment and jaw development.

Treatment

There is no cure for Parry–Romberg syndrome, and treatment is aimed at managing symptoms, improving function, and addressing cosmetic concerns. A multidisciplinary approach is often required, involving dermatologists, neurologists, plastic surgeons, and psychologists.

Medical Treatment

• Immunosuppressive therapy: Corticosteroids, methotrexate, or other agents may be used in early or active stages, especially when associated with scleroderma-like features or inflammation.

• Anticonvulsants: Used to manage seizures.

• Pain management: For trigeminal neuralgia or chronic headaches.

Surgical and Reconstructive Treatment

• Fat grafting or fillers: Autologous fat injections to restore volume and improve symmetry.

• Orthognathic surgery: For severe jaw or dental misalignment.

• Facial implants: In cases with severe soft tissue loss or bone atrophy.

• Timing of surgery: Often delayed until the disease stabilizes (usually after puberty).

Supportive and Psychological Care

• Psychological counseling: For emotional support, especially in adolescents and those with visible disfigurement.

• Speech and physical therapy: If neurological symptoms affect function.

Prognosis

The prognosis of Parry–Romberg syndrome is variable and depends on the severity of symptoms and extent of involvement. The condition typically progresses for several years (commonly 2–10 years) before entering a stable phase. Once the atrophy stabilizes, no further deterioration usually occurs. While the condition is not life-threatening, it can lead to permanent cosmetic and functional deformities.

With appropriate medical, surgical, and psychological interventions, many individuals with PRS can lead full and productive lives. Early diagnosis, close monitoring, and individualized treatment plans can greatly improve quality of life and reduce long-term complications.