Dermatology, New Jersey Medical School, Newark, New Jersey 07103, USA.
J Am Acad Dermatol. 2010 Mar;62(3):480-5. doi: 10.1016/j.jaad.2009.04.028. Epub 2010 Jan 18.
X-linked ichthyosis (XLI) is an X-linked recessive disorder of cutaneous keratinization with possible extracutaneous manifestations. It was first described as a distinct type of ichthyosis in 1965. XLI is caused by a deficiency in steroid sulfatase activity, which results in abnormal desquamation and a retention hyperkeratosis. XLI is usually evident during the first few weeks of life as polygonal, loosely adherent translucent scales in a generalized distribution that desquamate widely. These are quickly replaced by large, dark brown, tightly adherent scales occurring primarily symmetrically on the extensor surfaces and the side of the trunk. In addition, extracutaneous manifestations such as corneal opacities, cryptorchidism, and abnormalities related to contiguous gene syndromes may be observed. Diagnosis of XLI is usually made clinically, as the histopathology is nonspecific, but confirmation may be obtained through either biochemical or genetic analysis. Treatment should focus on cutaneous hydration, lubrication, and keratolysis and includes topical moisturizers and topical retinoids.
X 连锁鱼鳞病（XLI）是一种 X 连锁隐性皮肤角化病，可能伴有皮肤外表现。它于 1965 年首次被描述为一种独特的鱼鳞病类型。XLI 是由于类固醇硫酸酯酶活性缺乏引起的，导致异常脱屑和过度角化。XLI 通常在生命的头几周表现为广泛分布的多角形、松散附着的半透明鳞片，广泛脱屑。这些鳞片很快被大的、深褐色的、紧密附着的鳞片所取代，主要对称地出现在伸展表面和躯干侧面。此外，还可能观察到角膜混浊、隐睾和与相邻基因综合征相关的异常等皮肤外表现。XLI 的诊断通常是临床诊断，因为组织病理学是非特异性的，但可以通过生化或基因分析来确认。治疗应侧重于皮肤保湿、润滑和角质松解，包括局部保湿剂和局部维甲酸。
