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Neonatal Tuberous Sclerosis: is skin really the window?


Journal of Pediatrics & Neonatal Care
Tushar Kulkarni,1 Khaled El-Atawi,2 Mahmoud Elhalik3

Abstract

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.

Keywords

neonate, tuberous sclerosis, unusual cutaneous manifestation, linear epidermal verrucous nevus

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