Department of Dermatology, University of California, San Francisco, School of Medicine, San Francisco, California 94115, USA.
J Am Acad Dermatol. 2013 Jul;69(1):127-34. doi: 10.1016/j.jaad.2012.12.965. Epub 2013 Feb 4.
Keratitis, ichthyosis, and deafness (KID) syndrome is a rare genodermatosis associated with mutations in the connexin 26 gene. Although characterized by this clinical triad, KID syndrome predisposes to a heterogeneous spectrum of cutaneous manifestations and complications, both infectious and neoplastic in nature. Chronic mucocutaneous candidiasis and/or superinfection of skin lesions commonly occur and warrant aggressive therapeutic intervention. Benign neoplasms, namely trichilemmal tumors, have also been reported and can herald malignant growth and invasive disease. Squamous cell carcinoma of both mucosa and skin, especially acral sites, occurs in approximately 15% of patients. The pathogenesis of KID syndrome can be at least partially explained by the role of connexin 26 in intercellular communication and carcinogenesis, but the precise mechanism of disease remains unclear. Treatment strategies, which have ranged from antifungals and antibiotics to systemic retinoids, pose an ongoing challenge given the spectrum of disease. A review of the literature, with a particular focus on infection and malignancy associated with KID syndrome, and updates on the pathogenesis of disease, is discussed.
角膜炎、鱼鳞病和耳聋（KID）综合征是一种罕见的遗传性皮肤病，与连接蛋白 26 基因突变有关。尽管以这一临床三联征为特征，但 KID 综合征易发生各种皮肤表现和并发症，包括感染性和肿瘤性疾病。慢性黏膜皮肤念珠菌病和/或皮肤病变的继发感染较为常见，需要积极的治疗干预。良性肿瘤，如毛母细胞瘤，也有报道，并可能预示着恶性生长和侵袭性疾病。约 15%的患者发生黏膜和皮肤的鳞状细胞癌，尤其是肢端部位。KID 综合征的发病机制至少部分可以通过连接蛋白 26 在细胞间通讯和致癌作用中的作用来解释，但疾病的确切机制仍不清楚。由于疾病的多样性，治疗策略从抗真菌药和抗生素到全身维甲酸不等，这仍然是一个挑战。本文讨论了与 KID 综合征相关的感染和恶性肿瘤，并更新了疾病的发病机制，重点是文献复习。
