Horn D, Rommeck M, Sommer D, Körner H
Institute of Human Genetics, Humboldt University, Berlin, Germany.
Pediatr Dermatol. 1997 Jul-Aug;14(4):278-80. doi: 10.1111/j.1525-1470.1997.tb00956.x.
In most patients with hypomelanosis of Ito, the hypopigmentation is characterized by narrow bands following the lines of Blaschko. We report a 13-year-old severely retarded girl with leaf-shaped patches of hypopigmentation on the back together with short stature, scoliosis, facial dysmorphism, and asymmetrical leg length. The cytogenetic examination of both lymphocytes and fibroblasts demonstrated a mosaicism of 46,XX/47,XX+13. This result was confirmed by in situ hybridization using a chromosome 13-specific library in interphase cells. The pigmentary disturbance of our patient was similar to the phylloid pattern (type 3) of the classification of pigmentary patterns postulated by Happle. This type has been described in four patients so far, along with additional anomalies and a chromosomal mosaisicm in two patients.
在大多数伊藤色素减退症患者中，色素减退的特征是沿布拉斯科线分布的窄带。我们报告了一名13岁的严重智力发育迟缓女孩，其背部有叶状色素减退斑，同时伴有身材矮小、脊柱侧弯、面部畸形和双腿长度不对称。淋巴细胞和成纤维细胞的细胞遗传学检查显示为46,XX/47,XX+13的嵌合体。使用13号染色体特异性文库对间期细胞进行原位杂交证实了这一结果。我们患者的色素紊乱类似于哈普尔提出的色素沉着模式分类中的叶状模式（3型）。到目前为止，该类型已在4例患者中被描述，另外2例患者还伴有其他异常和染色体嵌合体。
