Sharma Praveen K, Sekar Aadithiyan, Amir Aashika Parveen, Prabhu Ajay Lucas Rubben
Department of Radio-Diagnosis, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, Tamil Nadu - 602105, India.
Radiol Case Rep. 2024 Mar 16;19(6):2230-2238. doi: 10.1016/j.radcr.2024.02.053. eCollection 2024 Jun.
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.
帕里-罗姆伯格综合征（PRS）是一种罕见的神经皮肤和颅面疾病，其特征为进行性半侧面部萎缩，主要影响儿童和年轻人，估计患病率为70万分之一。尽管罕见，但由于其病程不可预测以及潜在的功能和美学损害，PRS给患者及其家庭以及医疗服务提供者带来了重大挑战。主要目的是全面概述PRS，包括其临床特征、发病机制和治疗技术。我们报告一例9岁女性PRS患者，面部不对称明显，右侧面部出现明显萎缩。CT扫描显示右侧上颌骨、下颌骨和颧弓发育不全，右眼眼球内陷。MRI显示右侧颞肌、翼内肌和翼外肌、咬肌、笑肌、颊肌、颧大肌和颧小肌、上唇提肌、提口角肌和口轮匝肌萎缩。PRS的临床表现通常包括进行性面部萎缩，主要影响皮下组织、肌肉和骨骼。随着病情进展，患者可能会出现各种症状，包括面部不对称、半侧面部疼痛、牙齿和眼部异常以及神经表现。尽管自身免疫、遗传和血管因素可能是病因，但PRS的确切病因仍不清楚。PRS的治疗需要皮肤科医生、整形外科医生、神经科医生、眼科医生和牙科专家的多学科方法。治疗选择旨在缓解症状、改善功能并解决美容问题。自体脂肪移植、面部重建手术和正颌手术等外科干预已恢复面部对称性和功能。此外，非手术方法，包括肉毒杆菌毒素注射、假体装置和牙科干预，可能会缓解症状并提高整体生活质量。
