J Korean Ophthalmol Soc.  1999 Jun;40(6):1715-1720.

A Case of Linear Nevus Sebaceous Syndrome

• Hong JS
• Kim SM
• Lee JY

Abstract

The linear nevus sebaceous syndrome is a rare eurocutaneous syndrome that may be accompanied by ocular abnormalities. It consists of the triad of characteristic midline facial linear nevus sebaceous, neurologic abnormalities which may include cerebral and cerebellar hypoplasia, widening of the subarachnoid space, seizures, and mental retardation and ocular abnormalities that may include conjunctival lipodermoids, colobomas of the lids, iris, choroid, and disc, angiomas of the orbit, osseous choristomas of the choroid, and subretinal neovascularization. We experienced a 5 month-old patient who has normal gestational periods and karyotype 46, XY at chromosomal study. On physical examination, he was found to have a linear nevus sebaceous in the right midline of face and scalp. On ocular examination, he was found to have lipodermoid, optic atrophy, peripapillary staphyloma, macular hypogenesis and osseous choristoma of the choroid. CT scan showed widening of the subarachnoid spaces and cerebral and cerebellar hypoplasia. Histopathologically it was proved as nevus sebaceous. We report this unusual case with literature review.

Keyword

Nevus sebaceous syndrome; Linear nevus sebaceous; Cerebral and cerebellar hypoplasia; Ocular abnormalities

MeSH Terms

Choristoma
Choroid
Coloboma
Hemangioma
Humans
Infant
Intellectual Disability
Iris
Karyotype
Nevus*
Optic Atrophy
Orbit
Physical Examination
Scalp
Seizures
Subarachnoid Space
Tomography, X-Ray Computed