目的:先天性毛皮毛细血管扩张症(CMTC)是一种罕见的先天性疾病,以局限性或全身性皮肤血管异常为代表,随着时间的推移而消散。我们回顾了CMTC的诊断方法,并对其眼部表现进行了全面检查。此外,我们为CMTC患者的眼科检查提供建议.最后,我们研究了CMTC的可能原因,并总结了目前为建立该疾病的病因机制所做的努力.方法:详细检查了33例已发表的CMTC眼部异常病例。结果:根据一组特定的先天性皮肤症状诊断CMTC,主要是先天性网状红斑,对局部变暖和皮肤病变内没有静脉扩张无反应。眼部检查结果目前未用于此诊断过程,可能是由于对他们的介绍不完全理解,频率,和自然史。我们表明大多数眼科表现是先天性的,伴有青光眼和后段异常,包括视网膜灌注缺陷和血管异常,作为最常报道的发现。典型的眼科医疗和外科干预对于这些CMTC相关病理的管理似乎是有效的。不幸的是,CMTC的病因和病理生理学仍然未知,混淆了识别的努力,检查,并开始对患者进行治疗。结论:虽然眼科界传统上将青光眼视为CMTC的经典眼部异常,该数据集也主张对后段异常进行及时调查.然而,我们对CMTC眼部异常的理解因缺乏报告和/或不完整(或不存在)眼科检查而变得复杂,我们强烈鼓励在诊断时对所有CMTC患者进行全面的眼科检查,然后在整个生命中进行适当的筛查和监测。我们相信这些建议将激发更多的数据和疾病见解,这可能有助于将来对CMTC诊断算法的改进。
Purpose: Cutis marmorata telangiectatica congenita (
CMTC) is a rare congenital disorder typified by localized or generalized cutaneous vascular anomalies, which dissipate over time. We review the diagnostic approach to
CMTC and present a comprehensive examination of its ocular manifestations. Additionally, we offer recommendations for the ophthalmologic workup for patients with
CMTC. Finally, we examine the possible causes of
CMTC and summarize the current efforts to establish an etiologic mechanism for this disease.Methods: Thirty-three published cases of CMTC with ocular anomalies are examined in detail.Results: CMTC is diagnosed based on a specific set of congenital cutaneous symptoms, principally congenital reticular erythema that is unresponsive to local warming and absence of venectasia within the skin lesions. Ocular findings are not currently employed in this diagnostic process, likely due to an incomplete understanding into their presentation, frequency, and natural history. We show that the majority of ophthalmic manifestations are congenital, with glaucoma and posterior segment anomalies, consisting of retinal perfusion defects and vascular abnormalities, as the most frequently reported findings. Typical ophthalmic medical and surgical interventions appear to be effective for management of these CMTC-related pathology. Unfortunately, the etiology and pathophysiology of
CMTC remains unknown, which obfuscates efforts to identify, examine, and initiate treatment in patients.Conclusions: While the ophthalmic community has traditionally viewed glaucoma as the classic ocular anomaly of CMTC, this dataset advocates for the prompt investigation of posterior segment abnormalities as well. However, our understanding of CMTC\'s ocular anomalies is complicated by a lack of reporting and/or incomplete (or nonexistent) ophthalmic examinations, and we strongly encourage comprehensive ophthalmic examinations for all CMTC patients at the time of diagnosis, followed by appropriate screening and surveillance throughout life. We believe these recommendations will spur additional data and disease insights that may be useful for future refinements to CMTC diagnostic algorithms.