BACKGROUND Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation characterised by persistent reticulated marbled erythema. It tends to be associated with cutaneous atrophy, ulcerations and body asymmetry. CMTC is usually reported to be a benign condition; however, associated anomalies are not rare. Here, we have compiled information on published CMTC patients with the aim to evaluate the proposed diagnostic criteria by Kienast et al. and address the clinical manifestations, associated anomalies, differential diagnoses, management and prognosis. Our review is based on a search of the PubMed database which retrieved studies between 1922 and April 2019. The search yielded 148 original articles with a total of 485 patients. RESULTS Of the identified patients, 24.5% had generalised CMTC, 66.8% had localised and 8.7% had a non-specified distribution of CMTC. Associated anomalies were observed in 42.5% of patients, predominantly body asymmetry and neurological defects like seizure and developmental delay. Fewer patients (10.1%) had ophthalmological defects, usually glaucoma. The major criterium "absence of venectasia" was not met in 20.4% of patients. CONCLUSION We suggest that children with CMTC should be referred to an ophthalmologist for regular follow-up, and children with CMTC affecting the legs should be monitored for leg length discrepancy throughout the growth period. Furthermore, we suggest reconsideration of the major criterium "absence of venectasia" from the proposed diagnostic criteria, and instead include body asymmetry.

中文翻译：

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Cutis marmorata telangiectatica先天性：文献综述。

背景技术天然角质层皮肤先天性毛细血管畸形（CMTC）是一种罕见的毛细血管畸形，其特征是持续的网状大理石纹红斑。它往往与皮肤萎缩，溃疡和身体不对称有关。通常认为CMTC是一种良性疾病。但是，相关异常并不罕见。在这里，我们已经汇编了有关已发布的CMTC患者的信息，旨在评估Kienast等人提出的诊断标准。并解决临床表现，相关异常，鉴别诊断，管理和预后。我们的审查基于对PubMed数据库的搜索，该数据库检索了1922年至2019年4月之间的研究。该搜索产生了148篇原创文章，总共485例患者。结果在确定的患者中，有24.5％的患者具有广泛的CMTC，有66.8％的患者具有局部CMTC，有8。7％的CMTC未指定分配。在42.5％的患者中发现了相关的异常现象，主要是身体不对称以及癫痫发作和发育延迟等神经系统缺陷。眼科缺陷（通常为青光眼）的患者更少（10.1％）。20.4％的患者未达到主要标准“无静脉扩张”。结论我们建议应将CMTC儿童转诊至眼科医生进行定期随访，并应在整个生长期监测CMTC影响双腿的儿童的腿长差异。此外，我们建议从提议的诊断标准中重新考虑主要标准“无静脉扩张”，而应包括身体不对称。主要是身体不对称和神经系统缺陷，例如癫痫发作和发育迟缓。眼科缺陷（通常为青光眼）的患者更少（10.1％）。20.4％的患者未达到主要标准“无静脉扩张”。结论我们建议应将CMTC儿童转诊至眼科医生进行定期随访，并应在整个生长期监测CMTC影响双腿的儿童的腿长差异。此外，我们建议从提议的诊断标准中重新考虑主要标准“无静脉扩张”，而应包括身体不对称。主要是身体不对称和神经系统缺陷，例如癫痫发作和发育迟缓。眼科缺陷（通常为青光眼）的患者更少（10.1％）。20.4％的患者未达到主要标准“无静脉扩张”。结论我们建议应将CMTC儿童转诊至眼科医生进行定期随访，并应在整个生长期监测CMTC影响双腿的儿童的腿长差异。此外，我们建议从提议的诊断标准中重新考虑主要标准“无静脉扩张”，而应包括身体不对称。20.4％的患者未达到标准。结论我们建议应将CMTC儿童转诊至眼科医生进行定期随访，并应在整个生长期监测CMTC影响双腿的儿童的腿长差异。此外，我们建议从提议的诊断标准中重新考虑主要标准“无静脉扩张”，而应包括身体不对称。20.4％的患者未达到标准。结论我们建议应将CMTC儿童转诊至眼科医生进行定期随访，并应在整个生长期监测CMTC影响双腿的儿童的腿长差异。此外，我们建议从提议的诊断标准中重新考虑主要标准“无静脉扩张”，而应包括身体不对称。