鱼鳞癣是一组遗传性的角质化异常的皮肤病,其特点为特殊类型分布的皮肤剥落,胶棉样婴儿出生时皮肤厚且僵直紧张,耳、鼻扁平外翻和固定的“O”型唇。为常染色体或X染色体隐性遗传。 高雪氏病是一种因脑苷脂酶缺陷引起的鞘脂类贮积异常疾病,为常染色体隐性遗传。Ⅱ型高雪氏病对周围及中枢神经系统有影响,病人通常在出生6～24周因缺氧或肺感染死亡。 Ichthyosis is a group of hereditary keratinized skin disorders characterized by a specific type of disintegration of the skin, gum-like infants with thick, stiff, strained skin at birth, flattened eversion of the ear and nose, and fixed “O” shape lip. As autosomal or X-chromosome recessive. Gaucher’s disease is a disorder of sphingolipid storage due to cerebroside deficiency and is autosomal recessive. Type 2 Gaucher disease affects the peripheral and central nervous system. Patients are usually killed by hypoxia or pulmonary infection 6 to 24 weeks after birth.