Miteva Ljubka
Department of Dermatology and Venereology, Medical University, Sofia, Bulgaria.
Pediatr Dermatol. 2002 Nov-Dec;19(6):513-6. doi: 10.1046/j.1525-1470.2002.00222.x.
An 8-year-old boy with keratitis, ichthyosis, and deafness (KID) syndrome is reported. The patient has ichthyosis and deafness. Additional clinical features include hair and tooth abnormalities, as well as absence of the mammary glands. Although keratitis is an important element in the triad of KID syndrome, this patient has another ophthalmologic defect, a developmental anomaly of the lacrimal puncta, characterized by their complete absence. The case appears to be unique in the literature in that, to my knowledge, this particular ocular anomaly has not been described previously.
报告了一名患有角膜炎、鱼鳞病和耳聋（KID）综合征的8岁男孩。该患者患有鱼鳞病和耳聋。其他临床特征包括毛发和牙齿异常，以及乳腺缺如。虽然角膜炎是KID综合征三联征的重要组成部分，但该患者还有另一种眼科缺陷，即泪点发育异常，其特征为泪点完全缺如。据我所知，该病例在文献中似乎是独一无二的，因为此前尚未描述过这种特殊的眼部异常。
