CASE REPORTS
JOURNAL ARTICLE
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Epidermal nevus syndrome associated with anterior scleral staphyloma and ectopic bone and cartilaginous intraocular tissue.

BACKGROUND: Epidermal nevus syndrome encompasses a group of congenital neurocutaneous anomalies characterized by epidermal nevi in association with cerebral, ocular, and skeletal abnormalities. We report herein the case of a Japanese girl with epidermal nevus syndrome associated with complex ocular choristoma and discuss the histopathological findings.

CASE: A mass lesion was noted on the left eyeball of a newborn Japanese girl. The lesion appeared to be a scleral staphyloma. Linear and diffuse acanthoses were also apparent on the face. Skin biopsy revealed an epidermal nevus. Histopathological examination of the enucleated left eyeball demonstrated that extremely thin sclera adjacent to the corneal limbus resulted in anterior staphyloma, and ectopic osteocartilaginous tissues were present in the posterior sclera.

CONCLUSION: Epidermal nevus syndrome associated with complex ocular choristoma was diagnosed. The anterior staphylomatous lesion observed in this case has not been reported previously.

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