先天性角化不良1例及家系调查

报告1例先天性角化不良并附家系调查报告。先证者男，9岁。全身呈网状棕黑色色素沉着，LI腔黏膜白斑，牙齿排列不整齐，20甲营养不良。皮损组织病理检查示：表皮轻度角化，棘层明显变薄，基底层色素增加，真皮上部有较多噬黑素细胞。血染色体G带分析结果示：核型为46．XY，染色体正常。家族中另有3例男性患此病，其中2例已故。

Dyskeratosis congenita: a case report and the family pedigree analysis

A case of dyskeratosis congenita is reported and the family pedigree is also analyzed. The proband was a 9-year-old boy, with reticular pigmentation of the skin, leukoplakia in the oral mucosa, dystrophy of all nails and disproportionate dentition. Histopathological changes showed slight hyperkeratosis of epidermis, marked thinning of stratum spinosum, hyperpigmentation of basal layer and many melanophages in the upper dermis. Chromosomal G-band analysis revealed the karyotype was 46.XY, and all the chromosomes were morphologically normal. There were another three male patients in this family, and two of them had already died.