Neuroimaging and Clinical Features of Parry-Romberg Syndrome and Linear Morphea En-coup-de-sabre in a Large Case Series

Abstract

Rationale and Objectives

Parry-Romberg Syndrome (PRS) and linear morphea en-coup-de-sabre (ECDS) are rare neurocutaneous disorders characterized by unilateral progressive hemifacial atrophy and linear scleroderma, respectively^1,2. Imaging is important for assessing soft tissue and intracranial involvement³, though literature is limited to case reports and series ^2,4–8. We aim to describe radiologic and clinical epidemiologic features of PRS and ECDS.

Materials and Methods

A retrospective review of our institutional radiology database identified patients with PRS and ECDS who underwent MRI of the brain and/or face. Clinical data, including neurological symptoms and genetic testing, were collected from electronic medical records. Imaging data included distribution of soft tissue atrophy and signal changes emphasizing orbital, maxillofacial, vascular and intracranial findings.

Results

Among 51 included patients, 24 were diagnosed with PRS, 16 with ECDS, and 11 with both (PRS+ECDS). Females predominated (73%), with mean ages of 30.9 years for PRS, 17.9 for ECDS and 32.9 for PRS+ECDS. The interval between diagnosis and MRI was shorter for ECDS (0.8 years) than PRS (2.9 years) or PRS+ECDS (3.5 years). Seizures occurred in 25% of PRS cases. Intracranial abnormalities were observed in 37% of the cohort. PRS patients showed higher prevalence of masticator space (54%) and salivary gland atrophy, while calvarium thinning (36%) was more frequent in PRS+ECDS. Unlike PRS or PRS+ECDS, the orbits were unaffected in patients with ECDS alone.

Conclusion

We report a higher prevalence of exocrine gland involvement and seizures in PRS, with a prolonged duration between diagnosis and imaging. Comprehensive neuroimaging at the time of diagnosis is essential to determine disease extent, as craniofacial and intracranial findings are prevalent in these patients. Our findings may facilitate early radiologic diagnosis and expedite referral and treatment in patients with PRS and ECDS.