Yan Yan, Zhang Siyi, Zhou Henghua, Zhou Yixiong, Fu Yao
Department of Ophthalmology, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China.
Front Pediatr. 2021 May 20;9:678296. doi: 10.3389/fped.2021.678296. eCollection 2021.
This study aimed to figure out the association between ophthalmic and pathological features in patients with Linear Nevus Sebaceous Syndrome (LNSS) and in patients with Oculoectodermal Syndrome-Encephalocraniocutaneous Lipomatosis (OES-ECCL). It is a retrospective, non-consecutive, observational case series. Twenty-seven patients (12 with LNSS and 15 with OES-ECCL, 41 eyes) referred to the Department of Ophthalmology of the Shanghai Ninth People's Hospital between 2000 and 2020 were included. The mean age of the study population for the first-time consult was 5.7 years, ranging from 3 months to 34 years. Clinical notes, pathological records, and imaging findings were reviewed in all the patients. Fourteen (51.9%) cases showed bilateral ocular involvement. Epibulbar choristomas were seen in all the patients. All the lesions involved the conjunctiva and cornea simultaneously. Multiple lesions were observed in 12 eyes. Of the 14 excised lesions, 11 were found to be complex choristomas. Further, 24 (89%) patients had eyelid coloboma. Also, 13 patients (48%) were diagnosed with strabismus, and 12 patients (44%) had abnormal fundus imaging, including optic nerve hypoplasia. LNSS and OES-ECCL shared common ophthalmic features, including epibulbar choristomas with distinctive characteristics, eyelid coloboma, strabismus, and optic nerve hypoplasia. The complex choristoma was found to be associated with the diseases. These specific patterns can be diagnostic clues to distinguish them from other syndromes, such as craniofacial defects, and to remind ophthalmologists that such patients require additional dermatological and neurological examinations and referral. Moreover, a thorough evaluation of ocular conditions is imperative for early interventions.
本研究旨在明确线状皮脂腺痣综合征（LNSS）患者和眼外胚层综合征 - 脑颅皮肤脂肪瘤病（OES - ECCL）患者的眼科特征与病理特征之间的关联。这是一项回顾性、非连续性、观察性病例系列研究。纳入了2000年至2020年间转诊至上海第九人民医院眼科的27例患者（12例LNSS患者和15例OES - ECCL患者，共41只眼）。研究人群首次就诊时的平均年龄为5.7岁，范围从3个月至34岁。对所有患者的临床记录、病理记录和影像学检查结果进行了回顾。14例（51.9%）病例表现为双眼受累。所有患者均可见眼球表面的迷芽瘤。所有病变均同时累及结膜和角膜。12只眼中观察到多个病变。在切除的14个病变中，11个被发现为复杂迷芽瘤。此外，24例（89%）患者存在眼睑缺损。另外，13例（48%）患者被诊断为斜视，12例（44%）患者眼底影像学异常，包括视神经发育不全。LNSS和OES - ECCL具有共同的眼科特征，包括具有独特特征的眼球表面迷芽瘤、眼睑缺损、斜视和视神经发育不全。发现复杂迷芽瘤与这些疾病相关。这些特定模式可作为诊断线索，将它们与其他综合征（如颅面缺损）区分开来，并提醒眼科医生此类患者需要额外的皮肤科和神经科检查及转诊。此外，对眼部情况进行全面评估对于早期干预至关重要。
