PDF(Pubmed)
Abstract：
Cutis marmorata telangiectatica congenita is a rare congenital vascular malformation characterised by cutaneous vascular abnormalities, typically diagnosed at birth or in the early postnatal period. Although typically benign, this disease is associated with other systemic abnormalities, including rare ocular alterations, such as congenital glaucoma, cataracts and retinopathy.This manuscript describes a female infant, who presented with generalised livedo reticularis, a band of alopecia and cutaneous atrophy in the temporal region above the coronal suture. The patient was diagnosed with cutis marmorata telangiectatica congenita by a paediatrician, and an ophthalmological evaluation was requested. A funduscopy examination in both eyes showed temporal and superior retina with avascular areas with new vessels, venous dilations and shunts, and no retinal detachments. Given these findings, we performed retinal photocoagulation laser treatment with excellent results.This case report highlights the importance of early ophthalmological evaluation of children with this disease to prevent secondary complications, such as vitreous haemorrhage and tractional retinal detachment.
摘要：
cutismarmorata毛细血管扩张是一种罕见的先天性血管畸形，以皮肤血管异常为特征，通常在出生时或出生后早期被诊断。虽然通常是良性的，这种疾病与其他系统性异常有关，包括罕见的眼部改变,比如先天性青光眼，白内障和视网膜病变。这份手稿描述了一个女婴，他展示了广义的网状Livedo，冠状缝合线上方颞区的脱发和皮肤萎缩带。该患者被儿科医生诊断为先天性皮肤毛细血管扩张症，并要求进行眼科评估。双眼眼底镜检查显示颞叶和上视网膜，无血管区域有新血管。静脉扩张和分流，没有视网膜脱离.鉴于这些发现,我们进行了视网膜光凝激光治疗,效果极佳.该病例报告强调了对患有该疾病的儿童进行早期眼科评估以预防继发性并发症的重要性，如玻璃体出血和牵引性视网膜脱离。
