Patel Viraat, Sun Grace, Dickman Meghan, Khuu Phuong, Teng Joyce M C
University of California, Irvine, California.
Dermatol Ther. 2015 Mar-Apr;28(2):89-93. doi: 10.1111/dth.12192. Epub 2014 Dec 29.
Keratitis-ichthyosis-deafness (KID) syndrome is a rare hereditary cornification disorder resulting from mutations in connexin 26, a protein important for intercellular communication. In addition to the characteristic clinical triad of congenital bilateral sensorineural hearing loss, keratitis, and erythrokeratoderma, affected individuals also suffer from chronic bacterial and fungal infections and have an increased risk of benign and malignant cutaneous tumors. Treatments with antibiotics, antifungals, and systemic retinoids have been reported with variable response. Ocular and skeletal toxicity from prolonged exposure to systemic retinoids is a major concern especially in children. We report a case of a 7-year-old boy with KID syndrome complicated by frequent infections who responded well to acitretin 0.5-1.0 mg/kg/day. The patient had significant improvement of the hyperkeratosis on the scalp, trunk, and extremities within 4 weeks after initiating treatment. The patient has been on treatment for over a year without notable ocular, skeletal, or laboratory side effects. A review of the literature focusing on therapeutic options for KID syndrome and concerns about safety and tolerability is presented.
角膜炎-鱼鳞病-耳聋（KID）综合征是一种罕见的遗传性角化障碍，由连接蛋白26突变引起，连接蛋白26是一种对细胞间通讯很重要的蛋白质。除了先天性双侧感音神经性听力损失、角膜炎和红皮病性角化病这一典型临床三联征外，受影响个体还患有慢性细菌和真菌感染，患良性和恶性皮肤肿瘤的风险增加。据报道，使用抗生素、抗真菌药和全身性维甲酸治疗的反应各不相同。长期接触全身性维甲酸导致的眼部和骨骼毒性是一个主要问题，尤其是在儿童中。我们报告了一例7岁患KID综合征并伴有频繁感染的男孩，他对阿维A 0.5 - 1.0毫克/千克/天反应良好。开始治疗后4周内，患者头皮、躯干和四肢的角化过度有显著改善。该患者已接受治疗一年多，未出现明显的眼部、骨骼或实验室副作用。本文对聚焦于KID综合征治疗选择以及安全性和耐受性问题的文献进行了综述。
