Optic Nerve Hypoplasia and the Syndrome of Nevus Sebaceous of Jadassohn: A New Association

Barrett Katz; Clayton A. Wiley; Vincent W. Lee

doi:10.1016/S0161-6420(87)33244-0

Optic Nerve Hypoplasia and the Syndrome of Nevus Sebaceous of Jadassohn: A New Association

Barrett Katz, Clayton A. Wiley, Vincent W. Lee

Ophthalmology & Visual Sciences

Research output: Contribution to journal › Article › peer-review

24 Scopus citations

Abstract

The nevus sebaceous of Jadassohn (NSJ) syndrome is a not uncommon pediatric dermatosis, with malignant potential. It is the cutaneous manifestation of another phakomatosis, characterized by neurologic, ophthalmic, cardiovascular, skeletal, and urogenital involvement. The features of this syndrome overlap those of the oculo-auriculo-vertebral dysplasia of Goldenhar and tuberous sclerosis. The extent of system involvement suggests a developmental insult during the first few weeks of gestation. A clearly genetic basis has not been established. An infant with NSJ syndrome is described who had associated optic nerve hypoplasia. His clinical, pathologic, and radiologic findings, including computed tomography (CT) and magnetic resonance imaging, are presented.

Original language	English (US)
Pages (from-to)	1570-1576
Number of pages	7
Journal	Ophthalmology
Volume	94
Issue number	12
DOIs	https://doi.org/10.1016/S0161-6420(87)33244-0
State	Published - Jan 1 1987

Keywords

linear nevus sebaceous syndrome of Jadassohn
linear nevus syndrome
optic nerve hypoplasia
phakomatosis

ASJC Scopus subject areas

Ophthalmology

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10.1016/S0161-6420(87)33244-0

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title = "Optic Nerve Hypoplasia and the Syndrome of Nevus Sebaceous of Jadassohn: A New Association",

abstract = "The nevus sebaceous of Jadassohn (NSJ) syndrome is a not uncommon pediatric dermatosis, with malignant potential. It is the cutaneous manifestation of another phakomatosis, characterized by neurologic, ophthalmic, cardiovascular, skeletal, and urogenital involvement. The features of this syndrome overlap those of the oculo-auriculo-vertebral dysplasia of Goldenhar and tuberous sclerosis. The extent of system involvement suggests a developmental insult during the first few weeks of gestation. A clearly genetic basis has not been established. An infant with NSJ syndrome is described who had associated optic nerve hypoplasia. His clinical, pathologic, and radiologic findings, including computed tomography (CT) and magnetic resonance imaging, are presented.",

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