Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Department of Pediatrics, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
Ophthalmic Genet. 2020 Apr;41(2):101-107. doi: 10.1080/13816810.2020.1744018. Epub 2020 Mar 31.
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. Thirty-three published cases of CMTC with ocular anomalies are examined in detail. 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. 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.
先天性大理石样皮肤毛细血管扩张症（CMTC）是一种罕见的先天性疾病，其特征为局部或全身性皮肤血管异常，这些异常会随时间消散。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，我们还为 CMTC 患者的眼科检查提供了建议。最后，我们研究了 CMTC 的可能病因，并总结了目前为该疾病建立病因机制的努力。我们详细检查了 33 例发表的伴有眼部异常的 CMTC 病例。CMTC 的诊断基于一组特定的先天性皮肤症状，主要是先天性网状红斑，对局部加温无反应，皮肤病变内无静脉扩张。目前，眼部表现并未用于该诊断过程，这可能是由于对其表现、频率和自然史的认识不完整。我们发现，大多数眼部表现是先天性的，包括青光眼和后段异常，表现为视网膜灌注缺陷和血管异常，是最常报道的发现。典型的眼科药物和手术干预似乎对 CMTC 相关病变的管理有效。不幸的是，CMTC 的病因和病理生理学仍然未知，这阻碍了对患者进行识别、检查和开始治疗的努力。虽然眼科界传统上将青光眼视为 CMTC 的典型眼部异常，但这组数据提倡对后段异常进行及时调查。然而，由于缺乏报告和/或不完整（或不存在）的眼科检查，我们对 CMTC 的眼部异常的理解变得复杂，因此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，并在整个生命周期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，这可能对未来改进 CMTC 诊断算法有用。
