Retnakumari N, Varghese Manuja, Kannan V P
Professor and HOD, Department of Pedodontics, Government Dental College, Kozhikode, Kerala, India.
J Indian Soc Pedod Prev Dent. 2016 Apr-Jun;34(2):185-8. doi: 10.4103/0970-4388.180451.
Christ-Siemens-Touraine (CST) is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin. The common clinical findings include hypodontia, hypohydrosis, hypotrichosis, and onychodysplasia. Although hypodontia is common, anodontia is a rare feature. Most of the patients are suffering from social rejection and consequent psychological trauma because of the facial dysmorphism and absence of multiple teeth. Oral rehabilitation is of prime importance for such patients. This article presents a case in a 5½-year-old boy presenting with altered manifestations affecting almost all the ectodermal structures like skin, hair, nails, teeth, sebaceous glands, sweat glands, salivary glands, mammary glands, and tear glands. He also had complete anodontia and dry mouth. A multidisciplinary treatment was given to the patient with the collaboration of various health professionals. The child gained confidence and was relieved from the psychological impact following the prosthetic rehabilitation.
克里斯蒂 - 西门子 - 图赖讷综合征（CST）是一种罕见的X连锁隐性遗传性疾病，其特征是外胚层来源的两个或更多结构或组织发育异常。常见的临床表现包括牙齿发育不全、少汗、毛发稀疏和甲发育异常。虽然牙齿发育不全很常见，但无牙症是一种罕见的特征。大多数患者因面部畸形和多颗牙齿缺失而遭受社会排斥和随之而来的心理创伤。口腔修复对这类患者至关重要。本文介绍了一名5岁半男孩的病例，该男孩出现了几乎影响所有外胚层结构（如皮肤、毛发、指甲、牙齿、皮脂腺、汗腺、唾液腺、乳腺和泪腺）的改变表现。他还患有完全无牙症和口干症。在各健康专业人员的协作下，对该患者进行了多学科治疗。经过修复康复后，孩子获得了信心，心理影响也得到了缓解。
