Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting

Abstract

Parry Romberg syndrome (PRS) is an acquired neurocutaneous syndrome with uncertain pathophysiology, and its incidence is unknown. Usually, the disease becomes apparent during the first decade of life or early during the second decade, but it can also occur in adulthood, and it is more common in females. The main feature is slowly progressive hemiatrophy (thinning or shrinkage) of the facial tissues, typically fat, skin, connective tissues, muscle, and sometimes bone. In some people, atrophy may also affect the trunk and the limbs. Additional symptoms can potentially develop in some patients, including ophthalmological, psychiatric, and neurological complications. The clinical presentation serves as a guide for the diagnosis. Treatment can demand a multidisciplinary approach (maxillofacial surgeons, plastic surgeons, ophthalmologists, neurologists, dermatologists, psychiatrists, anesthetists, and family doctors). Patients can undergo restorative plastic surgery to improve their appearance, with highly variable success rates. We present a case report of a 52-year-old man who made an appointment at the family care unit (FCU) because of a left facial hemiatrophy that started progressing two to three months before, and he was afraid it might be cancer. At the physical exam, it was possible to examine a slight hemiatrophy in two different parts of the left side of the patient's face (the nasolabial-masseter region and the temporal-malar region). The facial CT scan showed a low degree of maxillary bone resorption. Through discussion with peers on the Family Doctor team, the diagnosis of a rare condition in the primary care setting was made possible. This case shows the importance of being aware of a rare disease despite working as a family physician and aims to make more people familiar with this syndrome. It also raises awareness about the need for discussion of clinical cases as a team.

Keywords: facial asimmetry; facial disfigurement; facial hemiatrophy; parry romberg syndrome; rare disease.

Figure 1. Patient's photo taken with his permission

Figure 2. Patient's photo taken with his permission