Bartholomew D W, Jabs E W, Levin L S, Ribovich R
Clin Genet. 1987 Jun;31(6):370-3. doi: 10.1111/j.1399-0004.1987.tb02826.x.
Incontinentia Pigmenti Achromians is a neurocutaneous disorder of uncertain etiology that has been associated with other systemic manifestations including ophthalmologic, musculoskeletal, neurologic and dental abnormalities. Chromosome abnormalities have been documented in some cases but may be coincidental. We describe a 16-month-old black female with an iris coloboma and single central deciduous maxillary incisor in addition to the hypopigmented skin lesions of hypomelanosis of Ito. The combination has not been previously described.
色素缺乏性色素失禁症是一种病因不明的神经皮肤疾病，与包括眼科、肌肉骨骼、神经和牙齿异常在内的其他全身表现有关。在一些病例中已记录到染色体异常，但可能是巧合。我们描述了一名16个月大的黑人女性，除了有伊藤色素减退症的色素减退性皮肤病变外，还有虹膜缺损和上颌乳中切牙单颗缺失。这种组合以前尚未有过描述。
