Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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August 22, 2019
Parry Romberg Syndrome (PRS)
- Background
- Parry Romberg syndrome (PRS) is a rare condition characterized by insidious, but progressive, varying degrees of facial hemiatrophy that subsequently culminates in a “burned out” phase without further progression.
- The underlying pathogenesis remains poorly understood. The clinical response to immunosuppressive therapy supports an immunologic-mediated process as the most accepted etiology.
- Clinical Presentation
- More commonly affects females in the first 2 decades of life. Progressive facial atrophy (predilection for left-sided involvement) is typical. Neurologic symptoms occur in 15%–20%, with ipsilateral headaches, seizures, and facial pain being most common.
- Ophthalmologic symptoms due to enophthalmos, uveitis and retinal or optic nerve abnormalities account for symptoms in 10%–30% patients.
- Key Diagnostic Features
- Progressive hemifacial atrophy is the key diagnostic feature of PRS.
- Atrophy of the scalp and calvarium, cerebral white matter FLAIR hyperintensities and microbleeds are useful diagnostic features of PRS.
- The unilateral distribution of these abnormalities is an important clue to the diagnosis.
- Differential Diagnosis
- En coup de sabre (variant of linear scleroderma): Shows overlapping clinico-radiologic findings with PRS and is therefore considered a spectrum by many authors.
- Rasmussen encephalitis: Presence of epilepsia partialis continua and absence of involvement of cutaneous structures help differentiate from PRS.
- Hemifacial microsomia and Goldenhar Syndrome: Typically congenital and nonprogressive.
- Treatment
- Anticonvulsive therapy
- Immunosuppressive therapy (corticosteroids, immunomodulators, and plasmapheresis)
- Autologous fat grafting with adipose-derived stem cells (favorable cosmetic results)
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