Parry-Romberg syndrome
General description
Parry-Romberg syndrome (PRS), also known as progressive facial hemiatrophy, is a rare neurocutaneous disorder. This condition affects approximately 1 in 250,000 to 1 in 700,000 individuals, with a higher prevalence in females and typically manifests during the first or second decade of life. The syndrome is characterized by progressive, unilateral atrophy of facial tissues that eventually stabilizes after a variable period of progression.
Clinical manifestations
The hallmark feature of Parry-Romberg syndrome is slowly progressive unilateral facial atrophy affecting the skin, subcutaneous tissue, muscles, and in severe cases, underlying cartilage and bone structures. One of the most common early signs is "frontal linear scleroderma en coup de sabre," a localized form of scleroderma resulting in hypo- or hyperpigmented skin lesions. The affected skin may become thin, dry, and hyperpigmented, and facial hair may turn white and fall out.
The most frequent neurological symptoms include headaches, facial pain, and seizures. Trigeminal neuralgia and neuropathic pain affecting all three branches of the trigeminal nerve have been well-documented, with patients experiencing continuous pain, hyperalgesia, and allodynia in the distribution of the affected trigeminal branches.
References
- De la Garza-Ramos, Cynthia, et al. "Brain abnormalities and epilepsy in patients with parry-romberg syndrome." American Journal of Neuroradiology 43.6 (2022): 850-856.
White matter lesion
The white matter hyperintensities typically appear on T2-weighted and FLAIR sequences as confluent areas involving the periventricular, deep, and subcortical white matter regions. These lesions predominantly affect the hemisphere ipsilateral to the facial atrophy and demonstrate geographic distribution patterns.
Microhemorrhages represent another important neuroimaging finding in PRS, occurring more frequently in patients with epilepsy compared to those without seizures. These microhemorrhages appear as punctate foci of susceptibility on gradient echo and susceptibility-weighted imaging sequences, distributed throughout the affected hemisphere.
Cerebral atrophy
The atrophy typically involves the cerebral hemisphere ipsilateral to the facial hemiatrophy and may range from focal to diffuse hemispheric involvement.