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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March 15, 2010
Parry-Romberg Syndrome
- Parry-Romberg syndrome, also known as progressive facial hemiatrophy, is a rare sporadic disease characterized by unilateral wasting of facial skin and subcutaneous tissue with variable involvement of muscle, cartilage and bone.
- Commonly, the initial lesion is a small area of abnormal pigmentation immediately superior to the eyebrow, which then enlarges and becomes atrophic. There may be a deep paramedian forehead scar en coup de sabre, which demarcates atrophic and normal tissue.
- More common in females, with onset in first or second decades. Predilection for left side of face. Etiology is obscure; proposed causes include trauma, infection with a slow virus, sympathetic dysfunction, immunological abnormality and cranial vascular malformation.
- 15% of patients have neurological disorders, most commonly epilepsy. Trigeminal neuritis, migraine, hemiplegia, facial paresthesia and a variety of opthalmological abnormalities, such as ptosis and enopthalmos (fat loss around orbit) have been described.
- CT/MRI findings: enopthalmos with facial hemiatrophy. Same side cerebral hemiatrophy, white matter signal lesions (T2 bright, minimally hypointense on T1, and meningeal enhancement).(Third image is of an older patient with advanced white matter changes.)
- Therapeutic trials have included anti-inflammatory (steroid), cytotoxic agents (methotrexate), and antiseizure medication as well as plastic surgery with graft of autogenous fat to correct facial deformities.
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