CT imaging-led diagnosis of Parry–Romberg syndrome: A case report and literature review highlighting craniofacial and neurologic involvement

Parry–Romberg syndrome (PRS) is a rare neurocutaneous disorder characterized by progressive unilateral facial atrophy involving soft tissues, fat, muscle, and sometimes underlying bone and brain tissue. The exact cause remains unclear, although autoimmune, neurogenic, vascular, traumatic, and inflammatory mechanisms have been proposed. We report a 43-year-old man in whom progressive unilateral facial atrophy was incidentally identified during evaluation after facial trauma. Computed tomography and three-dimensional craniofacial reconstruction demonstrated characteristic unilateral soft-tissue atrophy, maxillary and mandibular hypoplasia, and orbital asymmetry, which were instrumental in establishing the diagnosis and defining the extent of craniofacial involvement. A narrative review of 100 reported cases published over the last 2 decades was also performed to evaluate clinical manifestations, neuroimaging findings, and potential triggers. Neurological manifestations, including seizures, headache, stroke-like episodes, trigeminal neuralgia, and white matter abnormalities, were identified in a subset of patients. Craniofacial imaging frequently demonstrated soft-tissue atrophy, mandibular and maxillary hypoplasia, orbital abnormalities, calcifications, cerebral hemiatrophy, and white matter lesions. PRS appears to represent a heterogeneous multisystem disorder with important neurologic and neuroradiologic associations.