Manna Souvik
Community Medicine, Employees' State Insurance Corporation (ESIC) Medical College & Hospital, Alwar, IND.
Cureus. 2024 Jul 12;16(7):e64408. doi: 10.7759/cureus.64408. eCollection 2024 Jul.
The current case report presents a male baby, second born to nonconsanguineous parents at 38 weeks of gestation by lower segment cesarean section, with engorged blood vessels and distinctive patterns of discoloration and dilation of blood vessels on the left leg. A Doppler of the femoral artery and vein showed normal triphasic flow and waveforms without any evidence of significant luminal stenosis. There was also a lower limb length discrepancy of 1.5 cm. Genetic testing using fluorometric enzyme immunoassay screening revealed a negative screening report. Otologic screening using distortion product otoacoustic emissions revealed normal functioning of outer hair cells in both ears. The case was diagnosed as cutis marmorata telangiectatica congenita (CMTC), after ruling out genetic diseases. It was not associated with any other significant health problems. The diagnosis of CMTC was based on the appearance of the skin at birth, which became more noticeable shortly after two days. In this case, no specific treatment was warranted and the condition improved with time.
本病例报告介绍了一名男婴，为非近亲父母的二胎，孕38周时经下段剖宫产出生，左腿血管充血，有明显的血管变色和扩张图案。股动脉和静脉的多普勒检查显示三相血流和波形正常，无明显管腔狭窄迹象。下肢长度差异为1.5厘米。使用荧光酶免疫分析筛查进行的基因检测显示筛查报告为阴性。使用畸变产物耳声发射进行的耳科筛查显示双耳外毛细胞功能正常。排除遗传疾病后，该病例被诊断为先天性大理石样皮肤毛细血管扩张症（CMTC）。它与任何其他重大健康问题均无关联。CMTC的诊断基于出生时皮肤的外观，出生两天后不久变得更加明显。在这种情况下，无需进行特殊治疗，病情会随时间改善。
