Urban J, Toruniowa B, Janniger C K, Czelej D, Schwartz R A
Medical University of Lublin, Poland.
Cutis. 1996 Nov;58(5):329-36.
Incontinentia pigmenti is a rare genodermatosis that most commonly involves the skin, eyes, teeth, and central nervous system. We describe it in two generations. Two twin girls were observed at birth with a characteristic whorling pattern of erythema, patch, and plaques, and were later found to have dental anomalies and eye findings consisting of black pigment granules around the macula and optic nerve head. One child also had strabismus, the most common eye change, and an atrial septal defect. A scarring scalp alopecia was evident in both twins and their mother, who also had typical dental findings.
色素失禁症是一种罕见的遗传性皮肤病，最常累及皮肤、眼睛、牙齿和中枢神经系统。我们描述了它在两代人中的情况。两个双胞胎女孩出生时就观察到有特征性的红斑、斑片和斑块的漩涡状图案，后来发现有牙齿异常以及眼部表现，包括黄斑和视神经乳头周围有黑色色素颗粒。其中一个孩子还患有斜视，这是最常见的眼部变化，以及房间隔缺损。两个双胞胎及其母亲均有瘢痕性头皮脱发，其母亲也有典型的牙齿表现。
