Parry-Romberg syndrome: is it a “relapsing-remitting” disease?

Abstract

Parry-Romberg syndrome, also known as progressive hemifacial atrophy, is a rare, slowly progressive disorder characterized by unilateral, painless atrophy of the skin and subcutaneous tissue of the face. Neurological manifestations such as epilepsy, migraine and trigeminal neuralgia are relatively common and accompany in 15-20% of cases. Various etiologies such as infection, trauma, embryonic developmental dysfunction, sympathetic dysfunction and autoimmune disorders have been suggested as possible causes. Here we describe a 37-year-old woman whose disease manifested with dynamic contrast enhanced white matter changes over a period of two years, suggesting a “relapsing-remitting” course. Besides the inflammatory activity, positive serum-autoantibodies, inflammatory findings in cerebrospinal fluid, and an overlapping systemic autoimmune disorder may further support the hypothesis of autoimmune-inflammatory mediated pathogenesis.

Transcriptome Sequencing of the Oral Mucosa Reveals Gene Expression Differences in Patients With Parry-Romberg Syndrome

“…The presence of autoimmune antibodies, including antinuclear antibodies, anticentromere antibodies, antihistone antibodies, and rheumatoid factors, in some patients with PRS indicated that autoimmunity may have a pathogenic role in PRS. 3,11,12 In addition, sympathetic dysfunction may also be associated with the occurrence of PRS. This hypothesis was supported by the presence of PRS-related clinical manifestations in animals with removal of the superior cervical ganglion.…”

“…Several studies suggest that PRS may be an autoimmune disease on the same disease spectrum as localized scleroderma. The presence of autoimmune antibodies, including antinuclear antibodies, anticentromere antibodies, antihistone antibodies, and rheumatoid factors, in some patients with PRS indicated that autoimmunity may have a pathogenic role in PRS 3,11,12 . In addition, sympathetic dysfunction may also be associated with the occurrence of PRS.…”