Parry-Romberg syndrome is a rare condition that causes the soft tissues of a person’s face to slowly atrophy, or shrink and waste away. This progressive degeneration typically affects one side of the face, leading to a sunken or uneven appearance. While generally limited to the face, the condition can sometimes extend to other parts of the body.
What is Parry-Romberg Syndrome?
Parry-Romberg syndrome is a rare neurocutaneous syndrome, involving both the nervous system and the skin. It is characterized by progressive atrophy of tissues beneath the skin, primarily on one side of the face. This deterioration usually begins subtly and can advance to severe tissue loss, impacting fat, skin, connective tissues, muscle, and sometimes even bone.
The condition commonly appears in early childhood or adolescence, affecting females between 5 and 15 years of age. The left side of the face is more frequently affected, though in rare instances, both sides can experience atrophy. The progression of tissue loss can span from 2 to 10 years, after which the condition often enters a stable phase, sometimes referred to as a “burnout period,” where the atrophy stops or slows down. The exact cause remains unknown, but an autoimmune mechanism, where the immune system mistakenly attacks healthy tissues, is suspected.
Recognizing the Symptoms
The primary symptom of Parry-Romberg syndrome is progressive facial tissue atrophy, ranging from mild changes to significant asymmetry. This atrophy can involve the skin, subcutaneous fat, connective tissues, muscles, and in some cases, even the underlying bone. The deterioration often starts in areas like the upper jaw or between the nose and upper lip, then spreads to the corner of the mouth, around the eye, the brow, ear, and neck.
Neurological abnormalities are also frequently associated with the syndrome. Approximately 45% of affected individuals experience trigeminal neuralgia, which is severe facial pain, or migraines, severe headaches that may include visual disturbances, nausea, and vomiting. About 10% may develop seizures, often beginning within three years of initial symptoms.
The condition can also manifest with dental and ocular issues. About 50% of affected individuals develop dental abnormalities, such as delayed tooth eruption or exposed dental roots, and 35% may have difficulty opening their mouths normally or experience jaw symptoms. Eye problems, including a sunken appearance of the eye due to fat loss around the orbit, drooping eyelids (ptosis), or different colored eyes (heterochromia), are common. Additionally, changes in skin color, such as darkening (hyperpigmentation) or lightening (hypopigmentation), and loss of facial hair (alopecia) can occur.
Diagnosis and Treatment Approaches
Diagnosing Parry-Romberg syndrome involves a thorough evaluation of symptoms, patient history, and a clinical examination. Doctors look for characteristic signs of progressive tissue loss in the face, including changes in skin, fat, muscle, and bone. Specialized imaging tests, such as CT and MRI scans, are often used to visualize affected deep tissues and assess atrophy extent. MRI scans can also reveal neurological changes, such as brain atrophy or inflammation, present in about 10-20% of individuals.
Currently, there is no cure for Parry-Romberg syndrome, and no treatments are known to halt its progression. Treatment primarily focuses on managing symptoms and improving cosmetic appearance, often requiring a multidisciplinary team of specialists. Surgical interventions are a common approach for cosmetic improvement, but these are recommended only after atrophy has stabilized, typically following a burnout period.
Surgical techniques include fat injections, which transfer fat from other body areas to fill sunken facial regions, and various grafts, such as flap/pedicle grafts or bone implants, to restore facial contours. Success rates of these options can vary. While immunosuppressive drugs like methotrexate, corticosteroids, and cyclophosphamide have been used, their effectiveness in stopping disease progression or providing long-term benefits is not clearly established, requiring more research.