García Muret María Pilar, Puig Lluís, Allard Christophe, Alomar Augustín
Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Pediatr Dermatol. 2002 Nov-Dec;19(6):536-40. doi: 10.1046/j.1525-1470.2002.00228.x.
The term hypomelanosis of Ito (HI) is applied to individuals with skin hypopigmentation following the lines of Blaschko (type 1a of patterns indicative of somatic mosaicism as defined by Happle). Even though originally described as a purely cutaneous disease, subsequent reports of HI have included a 30-94% association with multiple extracutaneous manifestations. The frequency of extracutaneous associations has led many authors to consider HI to be neurocutaneous disorder. We report a male infant with cutaneous hypomelanosis along the lines of Blaschko distributed on the left half of the body who developed status epilepticus. Neuroimaging studies disclosed an angiomatous enlargement of the right choroid plexus and a gyral pattern of cortical and subcortical calcification in the right occipital region. Thus a diagnosis could be made of HI and associated Sturge-Weber syndrome-like leptomeningeal angiomatosis. This previously unreported association lends further support to the consideration of hypomelanosis of Ito as a marker of somatic mosaicism with frequently associated neurologic abnormalities. A relationship between HI and Sturge-Weber syndrome, two neuroectodermal disorders with a genetic mosaicism basis, might be possible due to nonallelic twin-spotting which in the embryologic period would define an abnormal development of neural, vascular, and cutaneous structures.
伊藤色素减退症（HI）这一术语适用于皮肤色素减退沿布拉斯科线分布（按照哈普尔定义的体细胞镶嵌现象的1a型模式）的个体。尽管最初被描述为一种单纯的皮肤疾病，但随后关于HI的报告显示，其与多种皮肤外表现的关联率为30% - 94%。皮肤外关联的频率使得许多作者认为HI是一种神经皮肤疾病。我们报告了一名男婴，其沿布拉斯科线分布的皮肤色素减退位于身体左侧，该患儿发生了癫痫持续状态。神经影像学研究显示右侧脉络丛血管瘤样增大以及右侧枕叶区域皮质和皮质下钙化的脑回样模式。因此，可诊断为HI并伴有类似斯特奇 - 韦伯综合征的软脑膜血管瘤病。这种先前未报道的关联进一步支持了将伊藤色素减退症视为体细胞镶嵌现象的标志物，且常伴有神经系统异常。HI与斯特奇 - 韦伯综合征这两种具有遗传镶嵌基础的神经外胚层疾病之间可能存在关联，这可能是由于非等位基因双着丝粒现象，在胚胎期这会导致神经、血管和皮肤结构的异常发育。
