Department of Otorhinolaryngology, Head and Neck Surgery University Medical Center Freiburg, Freiburg, Germany.
Otol Neurotol. 2010 Feb;31(2):210-5. doi: 10.1097/MAO.0b013e3181cc09cd.
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder, characterized by hyperkeratosis and erythrokeratoderma associated with profound sensorineural hearing loss. Additional concomitant phenomena of the KID syndrome are dystrophic nails, dental abnormalities, scarring alopecia, and vascularizing keratitis. The disorder is caused by mutation in the GJB2 gene (connexin-26), a gap junction protein. The aim of this study was to explore the feasibility and procedure of cochlear implantation in patients with KID syndrome and to assess the genetic causes.
Retrospective case review.
Tertiary referral center. Cochlear implant program.
We report on 2 cases of KID syndrome with congenital profound hearing loss. A 50-year-old woman with skin necrosis and implant extrusion 5 years after cochlear implantation and a 10-month-old infant girl with bilateral deafness, alopecia, bright light sensitivity, and congenital dermatosis.
Genetic analysis. Cochlear implantation.
Mutation analysis, surgical suitability, and hearing rehabilitation.
We detected a novel heterozygous missense mutation (Ile30Asn) in Patient 1 and a de novo mutation (Asp50Asn) in the GJB2 gene (connexin-26) in Patient 2. To decrease the risk of skin flap necrosis, we describe alternative surgical cochlear implantation techniques with a novel very thin receiver/stimulator (Nucleus CI 513; Cochlear Corp.). The postoperative course of both patients has been without any problems until now.
The combination of the cutaneous lesions with visual and auditory impairment demands to diagnose impaired hearing as early as possible. It would be helpful to search for KID syndrome in dealing with patients with deafness, skin lesions of unknown cause, and wound healing problems to choose the right method of surgical treatment and subsequent aftercare.
角化病-鱼鳞病-耳聋（KID）综合征是一种罕见的先天性疾病，其特征是存在与严重感音神经性听力损失相关的角化过度和红皮病。KID 综合征的其他伴随现象包括营养不良性指甲、牙齿异常、瘢痕性脱发和血管性角膜炎。该疾病是由 GJB2 基因（连接蛋白-26）突变引起的，该基因编码间隙连接蛋白。本研究旨在探讨 KID 综合征患者进行人工耳蜗植入的可行性和程序，并评估其遗传原因。
回顾性病例研究。
三级转诊中心。人工耳蜗植入项目。
我们报告了 2 例 KID 综合征合并先天性重度听力损失的病例。1 例 50 岁女性，人工耳蜗植入 5 年后出现皮肤坏死和植入物脱出，另 1 例 10 个月大的女婴，双侧耳聋、脱发、对强光敏感和先天性皮肤病。
基因分析。人工耳蜗植入。
突变分析、手术适应性和听力康复。
我们在患者 1 中发现了一种新的杂合错义突变（Ile30Asn），在患者 2 中发现了 GJB2 基因（连接蛋白-26）的新生突变（Asp50Asn）。为降低皮瓣坏死的风险，我们描述了一种新的非常薄的接收器/刺激器（Nucleus CI 513； Cochlear Corp.）替代手术人工耳蜗植入技术。到目前为止，这两位患者的术后过程都没有出现任何问题。
皮肤损伤与视觉和听觉障碍相结合，要求尽早诊断听力受损。在处理原因不明的耳聋、皮肤损伤和伤口愈合问题的患者时，寻找 KID 综合征有助于选择正确的手术治疗方法和后续护理。
