Katz B, Wiley C A, Lee V W
Department of Ophthalmology, University of California, San Diego, La Jolla 92093.
Ophthalmology. 1987 Dec;94(12):1570-6. doi: 10.1016/s0161-6420(87)33244-0.
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.
雅达松（Jadassohn）皮脂腺痣综合征（NSJ）是一种较为常见的具有恶变潜能的小儿皮肤病。它是另一种错构瘤病的皮肤表现，其特征为累及神经、眼、心血管、骨骼和泌尿生殖系统。该综合征的特征与戈尔登哈（Goldenhar）眼耳椎体发育异常和结节性硬化症的特征重叠。系统受累的程度提示在妊娠最初几周发生了发育损伤。尚未明确其遗传基础。本文描述了一名患有NSJ综合征并伴有视神经发育不全的婴儿。介绍了其临床、病理和放射学检查结果，包括计算机断层扫描（CT）和磁共振成像（MRI）。
