Dutheil P, Vabres P, Cayla M C, Enjolras O
Division of Dermatology, Hôpital Tarnier, Paris, France.
Pediatr Dermatol. 1995 Jun;12(2):107-11. doi: 10.1111/j.1525-1470.1995.tb00135.x.
Late cutaneous signs of incontinentia pigmenti (IP) are often subtle and misdiagnosed. We focus on these somewhat confusing clinical markers in a family, and on the genotypic diagnosis based on DNA analysis. An infant was born with a typical IP rash. Dermatologic examination of the women in her family revealed that her mother, her maternal aunt, and her grandmother had subtle skin signs reminiscent of IP. The four family members proved to be informative for DNA markers in the Xq28 region. Familial cases of IP are sometimes missed due to the lack of recognition of some late skin signs that are not always hyperpigmented streaks. Subtle, faint, hypochromic or atrophic lesions in a linear pattern may occur. Thus an accurate diagnosis of the women in a particular family also requires anamnestic data and recognition of extracutaneous anomalies. When a clinical diagnosis has been made, DNA marker analysis allows us to offer a prenatal diagnosis with minimal risk of error in case of further pregnancy. However, early testing of chorionic villus samples does not allow one to predict the severity of the disease in an affected fetus.
色素失禁症（IP）的晚期皮肤表现通常较为隐匿，容易误诊。我们关注了一个家族中这些有些令人困惑的临床特征，并基于DNA分析进行基因分型诊断。一名婴儿出生时患有典型的IP皮疹。对其家族中的女性进行皮肤科检查发现，她的母亲、姨妈和祖母都有一些细微的皮肤体征，让人联想到IP。这四名家庭成员在Xq28区域的DNA标记方面具有信息价值。IP的家族性病例有时会被漏诊，因为一些晚期皮肤体征未被识别，这些体征并不总是色素沉着过度的条纹。可能会出现呈线性分布的细微、 faint、色素减退或萎缩性病变。因此，对特定家族中的女性进行准确诊断还需要病史资料以及对皮肤外异常的识别。当做出临床诊断后，DNA标记分析使我们能够在再次怀孕时提供产前诊断，且误诊风险最小。然而，早期检测绒毛膜绒毛样本无法预测受影响胎儿的疾病严重程度。 （注：原文中“faint”未翻译完整，可能是有遗漏信息，正常应完整翻译为“微弱的”等合适意思）
