Boia Mărioara, Popescu Daniela-Eugenia, Jura Ana Maria Cristina, Belengeanu Valerica, Lungu Nicoleta, Manea Aniko Maria, Stoica Florina, Pienar Corina, Boia Eugen Radu
Department of Obstetrics and Gynecology, "Victor Babeş" University of Medicine and Pharmacy, Eftimie Murgu Sq. No. 2, 300041 Timişoara, Romania.
Medici's MedLife Hospital Timișoara, Ciprian Porumbescu Street No. 9, 300237 Timișoara, Romania.
Diagnostics (Basel). 2025 Aug 14;15(16):2043. doi: 10.3390/diagnostics15162043.
Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular anomaly characterized by a persistent, violaceous, reticulated skin pattern. It may present as a benign isolated lesion or as part of a broader syndrome with systemic anomalies such as limb asymmetry, glaucoma, or neurological impairment. We report a case series of three neonates with CMTC, each representing a distinct clinical pattern: localized, segmental, and generalized. All patients underwent comprehensive clinical assessment, including dermatologic, neurologic, and ophthalmologic evaluations. Additionally, a systematic literature review was conducted using PubMed, Scopus, and Web of Science databases, covering publications from 2012 to 2025. Case 1 involved a localized lesion of the calf; Case 2 had segmental involvement of the forearm and leg; Case 3 presented with generalized CMTC covering over 85% of the body surface, accompanied by dysmorphism and bilateral persistent fetal vasculature (PFV). Literature findings highlighted significant clinical variability and a stronger association of generalized forms with systemic abnormalities. CMTC exhibits a broad clinical spectrum. While localized cases often resolve spontaneously, generalized forms may require multidisciplinary evaluation. Early recognition and systemic screening are crucial for optimal management.
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血管异常，其特征为持续性、紫红色、网状皮肤图案。它可能表现为良性孤立性病变，或作为更广泛综合征的一部分，伴有肢体不对称、青光眼或神经功能障碍等全身异常。我们报告了一组三例患有CMTC的新生儿病例系列，每例代表一种独特的临床模式：局限性、节段性和全身性。所有患者均接受了全面的临床评估，包括皮肤科、神经科和眼科评估。此外，使用PubMed、Scopus和Web of Science数据库进行了系统的文献综述，涵盖2012年至2025年的出版物。病例1为小腿局限性病变；病例2为前臂和腿部节段性受累；病例3表现为全身性CMTC，覆盖身体表面85%以上，伴有畸形和双侧永存胎儿血管（PFV）。文献研究结果突出了显著的临床变异性以及全身性形式与全身异常之间更强的关联。CMTC表现出广泛的临床谱。虽然局限性病例通常会自发缓解，但全身性形式可能需要多学科评估。早期识别和系统筛查对于最佳管理至关重要。
