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  • Title: Searching beyond nevi - A rare case of neurocutaneous ocular syndrome.
    Author: Kulkarni P, Tanwar M, Kim U.
    Journal: Orbit; 2023 Oct; 42(5):553-557. PubMed ID: 35298322.
    Abstract:
    Epidermal nevus syndrome is a rare congenital disorder affecting only a few hundred people in the world. It has ophthalmic, dermatological, and neurological manifestations, with varied presentation. Here, we report a case of two-year-old child who presented with epibulbar mass in left eye, pigmented nevi over left side of the body and alopecia over left side of parieto-temporal scalp. Imaging confirmed epibulbar mass and presence of calcification of choroid on ipsilateral side with presence of arachnoid cyst of brain with underlying pachygyria. Neurological examination was normal and dermatologist confirmed presence of verrucous nevi over skin. Excisional biopsy of epibulbar mass revealed a complex choristoma with presence of lacrimal gland tissue. Underlying ocular findings were near normal with normal posterior segment. It is a rare form of epidermal nevus syndrome with near normal ocular findings in the presence of anterior and posterior choristoma, which has not been reported.
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