着色性干皮病为一少见的常染色体隐性遗传性疾病,有家族发病倾向,近亲发病率高;主要表现为皮肤光敏、雀斑以及易发生癌变;合并小头畸形、智力低下、共济失调等神经系损害者罕见。本文报告3例合并神经系损害的着色性干皮病,并结合文献复习对其临床表现、诊断及发病机理进行了讨论。 Coloring dry skin disease is a rare autosomal recessive genetic disease, family tendency, high incidence of close relatives; the main manifestations of skin photosensitivity, freckles and prone to cancer; combined microcephaly, mental retardation, ataxia Nervous system damage and other rare. This article reports 3 cases of combined with nervous system damage of the xeroderma pigmentosum, combined with the literature review of its clinical manifestations, diagnosis and pathogenesis are discussed.