斑驳病一家系

Piebaldism-A Case Report on a Family

斑驳病是一种罕见的常染色体显性遗传病。临床典型特征是先天性白发和白斑。先证者女,2岁3个月,额、腹及双下肢白斑和白色额发2年余。其父亲亦有白色额发和白斑,家族成员共3代19人,患病6人,年龄最小2岁,最大72岁。每代均有成员发病,男3例,女3例,符合常染色体显性遗传。

Piebaldism is a rare autosomal dominant disorder characterized by congenital poliosis and leukoderma. Proband, female, 2 years and 3 months old, with leukasmus on the forehead, abdomen, and both c,＇us and white forelock for more than two years. Her father also has white forelock and leukasmus . The clan has 3 generations with 19 persons altogether. Among them, 6 persons suffer from Piebaldism, with the youngest being 2 years old, and oldest being 72-year-old. For each generation, there have been people that suffer from the disease, 3 ma/es and 3 females, which is in line with the characteristic of autosomal dominant inheritance.