Parry Romberg Syndrome
This disfiguring facial disorder was recognized by the medical establishment nearly two centuries ago, YET there is still no research.
History
This disease was first described in 1825 by Dr. Caleb Hillier Parry in a collection of his medical writings. It was described a second time in 1846 by Dr. Moritz Heinrich Romberg, thus the name Parry Romberg. In 1871, a German neurologist was the first to use the descriptive title “progressive hemifacial atrophy.”
Signs and Symptoms
Initial signs and symptoms of PRS typically appear between the ages of 5 through 15.
Signs and symptoms are wide-ranging with a varying degree of severity and can include the following:
- Hyperpigmented or hypopigmented skin patches
- Facial asymmetry
- Atrophy of the skin and/or connective tissue and muscle
- A circumscribed patch of scleroderma in the frontal region of the scalp which is associated with a loss of hair and a depressed linear scar extending down thru the midface on the affected side. This scar is referred to as a “coup de sabre.”
Diagnosis
Obtaining a diagnosis of PRS can be challenging due to the very rare nature of the disorder, a wide and varying range of symptoms and a scarcity of physicians that are familiar with PRS.
Because symptoms typically start during childhood, the first consultation is usually with the family pediatrician.
Depending on the symptoms the child/young adult presents with, referrals to secondary physicians may include any of the following.
- Dermatologist
- Neurologist
- Ophthalmologist
- Dentist
- TMJ Specialist
- Rheumatologist
- Plastic Surgeon
Progression & Duration
The progression and duration vary from patient to patient and can range from a cessation of progression after diagnosis to an ongoing progression.
Treatment Options
Immunosuppressive drugs such as methotrexate, corticosteroids, cyclophosphamide, and azathioprine have been tried with uncertain outcomes, especially when coup de saber is NOT present. In addition, they can have significant side effects and risks which need to be considered.
Surgical Management
Affected individuals may benefit from autologous fat transfer or fat grafts to restore a more normal contour to the face. However, greater volume defects may require microsurgical reconstructive surgery which may involve the transfer of an island parascapular fasciocutaneous flap or a free flap from the groin, rectus abdominis muscle (Transverse Rectus Abdominis Myocutaneous or “TRAM”).