CLINICAL REPORT HEAD&NECK Parry Romberg Syndrome: 7 Cases and Literature Review

SUMMARY: Parry Romberg syndrome is a rare progressive hemiatrophy of the face that typically occurs in children and young adults and has a peculiar progression that ceases without apparent cause after a highly variable period. Only a subset of patients with Parry Romberg syndrome will develop secondary neurologic or ophthalmologic symptoms, and prognosis is highly variable. Inconsistency in the pattern of atrophy and the development of associated symptoms in patients with Parry Romberg syndrome has made it challenging to diagnose, prognosticate, and treat. The precise etiology of this disease remains unknown, but some authors have implicated sympathetic cervical ganglion dysfunction, abnormal embryogenesis, autoimmune and inflammatory mechanisms, or vasculopathy as potential causes. We present 7 cases of Parry Romberg syndrome and their associated clinical and imaging findings with specific attention to the radiographic characteristics of this disease. ABBREVIATION: PRS Parry Romberg syndrome Initially described by Drs Caleb Hillier Parry and Moritiz Heinrich Romberg in 1825 and 1846, respectively, Parry Romberg syndrome (PRS), also known as progressive facial hemiatrophy, is a rare, insidious, and self-limiting hemiatrophy of the face. It characteristically involves the skin and subcutaneous connective tissues and may later progress to affect the underlying musculature, cartilage, and osseous structures with or without development of neurologic symptoms. PRS typically presents initially in children and young adults and slowly progresses over a highly variable course ranging from 2 to 20 years, eventually reaching a “burned-out phase” and stabilizing for no apparent reason. This peculiar disease course, along with highly variable signs and symptoms, impedes consistent understanding of the underlying pathophysiology of PRS. Many theories about PRS have emerged throughout the years, attributing this syndrome to widely varying etiologies such as infection, trauma, sympathetic nervous system dysfunction, vascular abnormalities, inflammatory conditions, and autoimmune disorders, but at this time, a specific etiology remains uncertain. Changes of cutaneous PRS may be subtle on imaging studies, but 20% of these patients will have intracranial manifestations that may not correspond to the severity of soft-tissue involvement or neurologic symptoms. Radiologic examinations may identify clinically occult intracranial involvement, facilitate the exclusion of other differential diagnostic considerations, and aid in monitoring disease progression. We present 7 cases of PRS to illustrate its wide variety of extracranial and intracranial imaging findings, along with a discussion of the clinical course, differential diagnoses, and treatment options. The role of the radiologist in diagnosis and management is emphasized.