Parry-Romberg syndrome: Physical,clinical, and imaging features

Progressive hemifacial atrophy also known as Parry-Romberg syndrome is an acquired, slowly progressive disorder, occurring more in women, primarily affecting one side of the face, mainly characterized by unilateral atrophy, and loss of skin and subcutaneous tissues of face, muscles, and bones. Ocular and neurologic involvements are common. The possible etiology is unclear without any known cure. We report a rare case of Parry-Romberg syndrome with classical features. The clinical features, radiological imaging findings, differential diagnosis, and available treatment options are discussed in this report.Parry-Romberg syndrome (PRS), also named as progressive hemifacial atrophy is an acquired, sporadic neurocutaneous disorder that is mainly characterized by unilateral self-limited atrophy and loss of skin and subcutaneous tissue of the face.1-5 It was first reported by Parry, and then elaborated as a syndrome by Romberg.6,7 It is a slowly progressive disorder, occurring more in women, primarily affecting one side of the face, including skin, subcutaneous tissue, muscles, cartilage, and bones.1-4,6 The onset of this syndrome generally occurs in the first and second decades of life with skin changes resembling scleroderma, which is usually accompanied by this neurological effects of PRS, including seizures, migraine, trigeminal neuralgia and darkening of skin; partial seizures are the most common neurologic complication.2-4,8 Ocular involvement is common, and the most frequent manifestation is enophthalmos.2-5,9 Its origin is unclear without any known cure. Several possible causes have been postulated (encephalitis, trauma, scleroderma, vasculitis, migraine, infections, genetic and hereditary factors, autoimmunity, and so forth) but a multifactorial pathogenesis may be the first etiology.1-5,9 Possible neuroimaging findings of PRS in CT and MR imaging are; atrophy of skin and subcutaneous tissue of face, intracranial calcifications, cerebral atrophy, deep and subcortical white matter lesions, encephalomalacia, hydrocephalus, meningeal, and leptomeningeal enhancement, aneurysms, cortical thickening and dysgenesis, infarctions in the corpus callosum, and so forth.1,5,10 We describe a rare case of PRS with classical features, associated with alopecia, hyperpigmentation around the left globe and eyebrows, and unilateral asymmetric loss of subcutaneous fat in left lower leg. Our objective in presenting this particular case is to highlight the classical neurologic, skin and ocular findings of PRS with addition of subcutaneous fat loss in long extremities.