Parry-Romberg Syndrome: Progressive Facial Hemiatrophy: Case Report
Year: 2025
Type: article
Study design: Case Report
Abstract: Introduction: Parry-Romberg syndrome is a very rare anomaly of the craniofacial region, characterized by unilateral progressive facial atrophy of unknown origin. Case presented: A 48-year-old man with unilateral progressive facial atrophy since age 14 underwent electromyography, creatine phosphokinase, and facial bone computed tomography (CT) studies, which confirmed facial asymmetry compatible with Parry-Romberg syndrome. A 270-gene sequencing study revealed an uncertain variant of the MYH3 gene, which is associated with autosomal dominant distal arthrogryposis type 2A (DA2A) and type 2B3 (DA2B3). Discussion: Parry-Romberg syndrome begins with hyperpigmentation, dermal atrophy, and involvement of underlying tissues in the first decades of life. The MYH3 gene variant could be associated with developmental craniomaxillofacial abnormalities. Genes such as MTOR and DHX37 had mutations in patients with Parry-Romberg syndrome, which were not demonstrated in the study. The half-face suffers atrophy due to the arrangement of the trigeminal nerve and its branches. Conclusion: Mutations in the genes studied in patients with Parry-Romberg syndrome do not directly determine the clinical phenotype. Other factors, such as the environment, should be taken into account. Multidisciplinary management is suggested to enhance patients' quality of life and prevent serious problems with early diagnosis.
Language: English
Subfield: Pathology and Forensic Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4408558387