Käsmann-Kellner B, Jurin-Bunte B, Ruprecht K W
Department of Ophthalmology, University of Saarland, Homburg, Saar, Germany.
Ophthalmologica. 1999;213(1):63-9. doi: 10.1159/000027396.
Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is an inherited disorder of skin pigmentation that is associated with skin (100%), dental (90%), skeletal (40%), central nervous (40%) and ocular (35%) abnormalities. The pathogenesis is not yet known. The disease is usually seen in females, as it is an X-linked dominantly inherited disease which is lethal in males.
We present a 9-year-old girl with the classical general and ocular signs of IP. She presented in early childhood with inflammatory vesicular skin changes which changed into pigmented skin alterations especially on the trunk. Ocular findings were microphthalmia and retrolental mass formation in one eye and retinal pigmentary changes in the other. In our patient, the spontaneous mutation may have been caused by the family's close neighbourhood to Semipalatinsk, Kasachstan, where regular nuclear tests took place very shortly before the pregnancy with our patient began.
Ocular involvement is described in about a third of persons affected with IP. A nearly consistent and pathognomonic finding is a pigment retinopathy (mottled diffuse hypopigmentations). A further consistent finding are abnormalities of peripheral retinal vessels with areas of non-perfusion in the outer retina. The retinal pigment epitheliopathy and the abnormalities of retinal vessels are thought to be the underlying pathognomonic findings, with all other ocular signs being secondary (cataract, leucocoria, optic atrophy, strabismus, nystagmus and microphthalmus). Exudative retinal detachment occurs only in a minority, usually in very early childhood, when the skin lesions are exudative as well. IP patients should, however, be clinically observed regularly because of their retinal pigmentary changes.
色素失禁症（IP；布洛赫 - 苏尔茨贝格综合征）是一种遗传性皮肤色素沉着障碍疾病，与皮肤（100%）、牙齿（90%）、骨骼（40%）、中枢神经（40%）及眼部（35%）异常相关。其发病机制尚不清楚。该疾病通常见于女性，因为它是一种X连锁显性遗传病，对男性具有致死性。
我们报告一名9岁患有典型IP全身及眼部体征的女孩。她在幼儿期出现炎症性水疱皮肤改变，之后转变为色素沉着性皮肤改变，尤其在躯干部位。眼部检查发现一只眼睛有小眼畸形和晶状体后肿块形成，另一只眼睛有视网膜色素改变。在我们的患者中，自发突变可能是由于其家族居住在哈萨克斯坦塞米巴拉金斯克附近，在其母亲怀孕前不久该地区进行了常规核试验。
约三分之一的IP患者有眼部受累情况。一个几乎一致且具有诊断意义的发现是色素性视网膜病变（斑驳状弥漫性色素减退）。另一个一致的发现是周边视网膜血管异常，在外层视网膜有非灌注区域。视网膜色素上皮病变和视网膜血管异常被认为是具有诊断意义的基本发现，所有其他眼部体征都是继发性的（白内障、白瞳症、视神经萎缩、斜视、眼球震颤和小眼畸形）。渗出性视网膜脱离仅在少数情况下出现，通常在幼儿期非常早的时候，此时皮肤病变也是渗出性的。然而，由于IP患者有视网膜色素改变，应定期进行临床观察。
