Korean J Pathol.  2000 Sep;34(9):680-684.

Complex Conjunctival Choristoma in Linear Nevus Sebaceous Syndrome: A case report

• Yoo J
• Koh JK
• Kang SJ
• Kim BK

Abstract

Linear nevus sebaceous syndrome is an uncommon neurocutaneous disorder characterized by nevus sebaceus, seizures, and mental retardation, and is often accompanied by ocular anormalies. We recently experienced a case of conjunctival choristoma associated with linear nevus sebaceous syndrome in a 17-month-old boy. The child was the product of a full-term uncomplicated pregnancy and normal delivery with normal karyotype of 46, XY. He was noted at birth to have a conjunctival mass on the right eye and linear nevi over the midline facial region and right temporoparietal scalp. Ophthalmologic examination revealed optic atrophy, peripapillary staphyloma, macular hypogenesis, and osseous choristoma of the choroid. A computed tomography scan demonstrated widening of the subarachnoid space and moderate atrophy of the cerebral and cerebellar hemispheres. He has been followed by ophthalmology and completely free of seizures since birth. The patient underwent excision of the conjunctival mass and biopsies of the skin lesion at 17 months of age. Histologic examination of the skin biopsies was characteristic for the linear sebaceous nevus of Jadassohn. Histologic findings of the conjunctival lesion showed a complex choristoma that contained lacrimal gland tissue and cartilage.

Keyword

Choristoma; Nevus sebaceus

MeSH Terms

Atrophy
Biopsy
Cartilage
Child
Choristoma*
Choroid
Humans
Infant
Intellectual Disability
Karyotype
Lacrimal Apparatus
Male
Neurocutaneous Syndromes
Nevus*
Nevus, Sebaceous of Jadassohn
Ophthalmology
Optic Atrophy
Parturition
Pregnancy
Scalp
Seizures
Skin
Subarachnoid Space