Isolated Cutis Marmorata Telangiectatica Congenita in a Full-Term Neonate: A Case Report

足月新生儿孤立性先天性毛细血管扩张性大理石纹皮肤:病例报告

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Abstract

Cutis marmorata telangiectatica congenita (CMTC) is a rare condition present at birth, marked by a persistent, net-like purplish discoloration of the skin caused by abnormal blood vessels. We report a case of a full-term female neonate born following an uneventful pregnancy, who exhibited widespread, nonblanching, marble-like skin changes involving the trunk, limbs, and face. These findings were present at rest, did not resolve with warming, and were more prominent during crying. Physical examination revealed no associated limb asymmetry, neurologic abnormalities, or dysmorphic features. A comprehensive diagnostic workup, including laboratory tests, echocardiography, skeletal survey, and Doppler ultrasonography, ruled out neonatal lupus, Klippel-Trénaunay syndrome, and capillary malformation-arteriovenous malformation syndrome. Based on clinical features and exclusion of other conditions, a diagnosis of isolated CMTC was made. The patient was managed conservatively with parental education and scheduled follow-up. At six months of age, the skin changes had faded partially, and no complications or developmental delays were observed. This case emphasizes the importance of recognizing CMTC as a benign condition that warrants thorough evaluation to exclude associated anomalies and benefit from early, structured monitoring.

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