PDF(Pubmed)
Abstract：
Parry-Romberg syndrome (PRS) is a rare neurocutaneous and craniofacial disorder characterized by progressive hemifacial wasting and atrophy that predominantly affects children and young adults, with an estimated prevalence of 1 in 700,000 individuals. Despite its rarity, PRS poses significant challenges for patients, their families, and healthcare providers due to its unpredictable course and potential functional and aesthetic impairments. The main aim is to provide a comprehensive overview of PRS, encompassing its clinical features, pathogenesis, and management techniques. We present a case of PRS in a 9-year-old female with pronounced facial asymmetry, with marked wasting and atrophy involving the entire right side of the face. CT scan revealed right sided hypoplasia of maxilla, mandible, and zygomatic arch with enophthalmos of right eye. MRI showed right temporalis, medial and lateral pterygoid, masseter, risorius, buccinator, zygomaticus major and minor, levator labii superioris, levatorangulioris and orbicularis oris muscles atrophy. The clinical presentation of PRS typically involves progressive facial atrophy, predominantly affecting the subcutaneous tissues, muscles and bones. Patients may experience various symptoms as the condition advances, including facial asymmetry, hemifacial pain, dental and ocular abnormalities and neurological manifestations. The exact etiology of PRS remains unknown, although autoimmune, genetic and vascular factors are likely contributors. Treatment of PRS needs a multidisciplinary approach involving dermatologists, plastic surgeons, neurologists, ophthalmologists, and dental specialists. Treatment options aim to alleviate symptoms, improve function and address cosmetic concerns. Surgical interventions such as autologous fat grafting, facial reconstructive procedures and orthognathic surgery have restored facial symmetry and function. Additionally, nonsurgical modalities, including botulinum toxin injections, prosthetic devices and dental interventions, may offer symptomatic relief and enhance overall quality of life.
摘要：
Parry-Romberg综合征（PRS）是一种罕见的神经皮肤和颅面疾病，其特征是进行性半面部萎缩和萎缩，主要影响儿童和年轻人，估计患病率为700,000人中的1人。尽管它很罕见,PRS对患者提出了重大挑战，他们的家人,和医疗保健提供者，由于其不可预测的过程和潜在的功能和美学损伤。主要目的是提供PRS的全面概述，包括其临床特征，发病机制，和管理技术。我们介绍了一个9岁女性的PRS病例，面部不对称明显，整个右侧面部都有明显的消瘦和萎缩。CT显示右侧上颌骨发育不全,下颌骨,和右眼有眼球内陷的骨弓。MRI显示右颞肌,内侧和外侧翼状体，咬肌,risorius,buccinator,zygomaticus主要和次要，上提肌，左叶和口轮匝肌萎缩。PRS的临床表现通常涉及进行性面部萎缩，主要影响皮下组织，肌肉和骨骼。随着病情的发展，患者可能会出现各种症状，包括面部不对称，面部疼痛,牙齿和眼睛异常和神经系统表现。PRS的确切病因仍然未知，虽然自身免疫,遗传和血管因素可能是致病因素.PRS的治疗需要涉及皮肤科医生的多学科方法，整形外科医生,神经学家,眼科医生,和牙科专家。治疗方案旨在缓解症状，改善功能并解决化妆品问题。外科干预措施，如自体脂肪移植，面部重建手术和正颌手术恢复了面部对称性和功能。此外,非手术方式，包括肉毒杆菌毒素注射,假肢装置和牙科干预，可以缓解症状并提高整体生活质量。
