Sybert V P
Children's Hospital and Medical Center, University of Washington, Departments of Dermatology and Medical Genetics, Seattle 98105.
J Invest Dermatol. 1994 Nov;103(5 Suppl):141S-143S. doi: 10.1111/1523-1747.ep12399466.
The term hypomelanosis of Ito has been used as a diagnosis for individuals with hypopigmentation or depigmentation distributed along the lines of Blaschko. Approximately half of these patients have had neurologic, skeletal, and/or ocular abnormalities. In many, determination that the lighter areas of skin were hypopigmented rather than the darker areas hyperpigmented has been arbitrary. Evidence documenting single-gene transmission is unconvincing and recurrence risks appear to be negligible in most instances. Karyotyping of blood lymphocytes, skin fibroblasts, and/or keratinocytes of 115 individuals reported in the literature revealed abnormal chromosome constitutions in 60. Three patients were 46,XX/46,XY chimeras, two were 46XX/46,XX chimeras. Most patients were mosaic for aneuploidy or unbalanced translocations, with two or more chromosomally distinct cell lines either within the same tissue or between tissues. The more common alterations included mosaic trisomy 18, diploidy/triploidy, mosaicism for sex chromosome aneuploidy, and tetrasomy 12p. Karyotyping of blood and, if necessary, skin, to detect mosaicism is warranted in all patients presenting with swirley pigmentary changes, either hyperpigmentation or hypopigmentation. The terms hypomelanosis of Ito and incontinentia pigmenti achromians should be abandoned as they are neither diagnostic or specific.
伊藤色素减退症这一术语一直被用于诊断那些色素减退或色素脱失沿布拉斯科线分布的个体。这些患者中约有一半存在神经、骨骼和/或眼部异常。在许多情况下，确定皮肤较浅区域是色素减退而非较深区域色素沉着过度是主观的。记录单基因传递的证据并不令人信服，而且在大多数情况下复发风险似乎可以忽略不计。文献报道的115例个体的血液淋巴细胞、皮肤成纤维细胞和/或角质形成细胞的核型分析显示，60例存在异常染色体构成。3例患者为46,XX/46,XY嵌合体，2例为46XX/46,XX嵌合体。大多数患者为非整倍体或不平衡易位的嵌合体，在同一组织内或不同组织之间有两种或更多种染色体不同的细胞系。较常见的改变包括18号染色体三体镶嵌、二倍体/三倍体、性染色体非整倍体镶嵌和12号染色体短臂四体。对于所有出现漩涡状色素沉着改变（色素沉着过度或色素减退）的患者，进行血液以及必要时皮肤的核型分析以检测嵌合体是必要的。伊藤色素减退症和色素失禁症无色型这两个术语应被摒弃，因为它们既无诊断价值也不具有特异性。
