Frontera Izquierdo P, Cabezuelo Huerta G, Mulas F, Monfort Martí A
An Esp Pediatr. 1981 Apr;14(4):272-8.
"Incontinentia pigmenti" its a rare familial disorder of unknown origin characterized by a distinctive dermatosis, almost exclusive occurrence in females, and developmental abnormalities that affect hair, eyes, teeth and central nervous system. 30.5% of cases described in the world literature had notable C.N.S. disease. Authors report three cases of I.P. in pathognomonic pigmented stage and with severe neurologic involvement. In two cases pneumoencephalography show severe cerebral cortical atrophy. Patients had motor and mental retardation, abnormal E.E.G. and one of them a West syndrome. The third case died at the age of three months, and neuropathological examination of the brain revealed porencephalic lesions.
色素失禁症是一种罕见的、病因不明的家族性疾病,其特征为独特的皮肤病,几乎仅见于女性,以及影响毛发、眼睛、牙齿和中枢神经系统的发育异常。世界文献中描述的病例有30.5%存在显著的中枢神经系统疾病。作者报告了3例处于典型色素沉着期且伴有严重神经受累的色素失禁症病例。其中2例气脑造影显示严重的大脑皮质萎缩。患者有运动和智力发育迟缓、脑电图异常,其中1例患有韦斯特综合征。第3例在3个月大时死亡,脑部神经病理学检查发现有脑穿通畸形病变。