新生儿结节性硬化症:皮肤真的是窗口吗?

T. Kulkarni, K. El-Atawi, M. Elhalik
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引用次数: 0

摘要

我们报告了一例新生儿,他在胎儿时期被诊断为心内肿块,并出现白色线状丘疹,被诊断为线状疣状表皮痣。除了心内肿块,最有可能是横纹肌瘤,MRI大脑也显示出结节的存在,下一代序列分析证实了新生儿结节性硬化症的诊断。新生儿仍然没有症状,出院回家,仍在密切随访中,没有任何症状。因此,有人建议,线性疣状表皮痣,一种未描述为结节性硬化症的皮肤表现,可以被认为是结节性硬化病不断扩大的皮肤体征,并应提醒医生注意其可能性。
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Neonatal Tuberous Sclerosis: is skin really the window?
We report a case of a neonate who was diagnosed to have intracardiac mass as a fetus and presented with white linear papules that was diagnosed to be Linear Verrucous Epidermal Nevus. Apart from the intracardiac mass, most likely rhabdomyoma, MRI Brain also showed presence of tubers and the Next Generation Sequence Analysis confirmed the diagnosis of Neonatal Tuberous Sclerosis. The neonate remained asymptomatic and was discharged home and remains under close follow up without any symptoms. It is thus suggested that Linear Verrucous Epidermal Nevus, a cutaneous manifestation not described with Tuberous Sclerosis could be considered under the ever-expanding cutaneous signs of Tuberous Sclerosis and should alert the physician toward its possibility.
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