Homeida L, Wiley R T, Fatahzadeh M
Candidate, Master of Dental Science, Rutgers School of Dental Medicine, Newark, New Jersey, USA.
Chief Resident, Oral Pathology, New York Hospital in Queens, New York, New York, USA.
Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Apr;119(4):e226-32. doi: 10.1016/j.oooo.2015.01.005. Epub 2015 Feb 3.
Keratitis-ichthyosis-deafness (KID) syndrome is a rare form of ectodermal dysplasia with significant visual and auditory impairment. Pathogenesis involves a mutation in the GJB2 gene, which encodes connexin-26, a protein in the epithelial gap junctions thought to be involved in the differentiation of ectodermally derived tissues. Affected patients are also at increased risk for the epithelial malignancies. To our knowledge, nearly 100 cases of KID syndrome, including 19 with squamous cell carcinoma (SCC) complications, have been reported worldwide. We report here a patient with KID syndrome who developed an ulcerative oral lesion causing him significant discomfort; he was subsequently diagnosed with oral SCC. We review the clinical presentation and symptomatology, including those affecting the oral cavity for this syndrome and highlight the importance of multidisciplinary collaboration and life-long screening aimed at prevention of the evolving complications.
角膜炎-鱼鳞病-耳聋（KID）综合征是一种罕见的外胚层发育不良形式，伴有严重的视力和听力损害。其发病机制涉及GJB2基因突变，该基因编码连接蛋白26，这是一种上皮间隙连接中的蛋白质，被认为参与外胚层衍生组织的分化。受影响的患者发生上皮恶性肿瘤的风险也会增加。据我们所知，全球已报告了近100例KID综合征病例，其中19例伴有鳞状细胞癌（SCC）并发症。我们在此报告一名患有KID综合征的患者，他出现了溃疡性口腔病变，给他带来了极大的不适；随后他被诊断为口腔鳞状细胞癌。我们回顾了该综合征的临床表现和症状，包括影响口腔的症状，并强调了多学科协作和终身筛查以预防不断发展的并发症的重要性。
