Stoll C, Alembik Y, Grosshans E, de Saint Martin A
Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France.
Genet Couns. 2002;13(3):281-7.
Patterned pigmentary disturbances are seen in a large variety of human genetic disorders. Cytogenetic studies have provided evidence that such skin lesions often reflect chromosomal mosaicism. In addition to the well-known pattern of Blaschko's lines a classification of several distinct types was proposed by Happle. This report add the case of a boy with an unusual mosaic-like distribution of skin pigmentation and a further chromosomal anomaly which has not been described in pigmentary mosaicism previously. The proband was born after an uneventful pregnancy and delivery. Developmental milestones were delayed. A generalised hirsutism was noted with a facial dysmorphia: coarse facies. short philtrum, synophris, and large low set years. Hyperpigmentation followed a checkerboard pattern: alternating squares of pigmentary anomalies with a sharp midline separation. Cytogenetic findings Included a normal karyotype (peripheral blood) and a mosaicism 12q;14q translocation (70% of fibroblasts). The present case stresses the importance of careful chromosomal analysis of different tissues in patients with pigmentary anomalies.
在多种人类遗传疾病中可见有图案的色素沉着紊乱。细胞遗传学研究已提供证据表明，此类皮肤病变常反映染色体镶嵌现象。除了众所周知的布拉斯科线图案外，哈普尔还提出了几种不同类型的分类方法。本报告补充了一例皮肤色素沉着呈异常镶嵌样分布且伴有另一种染色体异常的男孩病例，这种情况在之前的色素沉着镶嵌现象中尚未有过描述。先证者在一次正常的妊娠和分娩后出生。发育里程碑延迟。发现有全身性多毛症并伴有面部畸形：面容粗糙、人中短、眉连合、耳朵大且位置低。色素沉着呈棋盘状图案：色素异常区域交替出现，中间有明显的中线分隔。细胞遗传学检查结果包括正常核型（外周血）以及12q;14q易位的镶嵌现象（70%的成纤维细胞）。本病例强调了对色素异常患者不同组织进行仔细染色体分析的重要性。
