Buss P W, Hughes H E, Clarke A
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
J Med Genet. 1995 Sep;32(9):716-23. doi: 10.1136/jmg.32.9.716.
Twenty-four cases of EEC syndrome were identified as part of a nationwide study. Ectodermal dysplasia, by study definition, was present in all cases and hair and teeth were universally affected. Nail dysplasia was present in 19 subjects (79%) and the skin was affected in 21 (87%). The presence of hypohidrosis was not noted as a predominant feature in the syndrome and its occurrence appeared to depend on the presence of all other features. Distal limb defects from simple syndactyly to tetramelic cleft hand and foot were identified, including preaxial anomalies. Orofacial clefting was identified in 14 cases (58%) and lacrimal duct anomaly in 21 (87%). Significant clinical problems encountered were chiefly cosmetic or ophthalmological, but conductive deafness and genitourinary problems in some cases required surgical intervention. Altered self-image was also noted in some cases. Multidisciplinary management is necessary with the early involvement of the clinical geneticist. Developmentally, the EEC syndrome and related disorders represent disorders of ectodermal/mesodermal interaction. Candidate regions include 7q21.3, the "ectrodactyly" locus; other candidates include developmental genes implicated in the ectodermal/mesodermal interactive process.
作为一项全国性研究的一部分，共识别出24例EEC综合征病例。根据研究定义，所有病例均存在外胚层发育异常，毛发和牙齿均普遍受累。19名受试者（79%）存在指甲发育异常，21名（87%）皮肤受累。少汗症并非该综合征的主要特征，其出现似乎取决于所有其他特征的存在。识别出从简单并指（趾）到四肢裂手和裂足的远端肢体缺陷，包括轴前异常。14例（58%）存在口面部裂，21例（87%）存在泪道异常。遇到的主要临床问题主要是美容或眼科方面的，但某些情况下的传导性耳聋和泌尿生殖系统问题需要手术干预。部分病例还存在自我形象改变。临床遗传学家应尽早参与，进行多学科管理。从发育角度来看，EEC综合征及相关疾病代表外胚层/中胚层相互作用障碍。候选区域包括7q21.3，即“缺指（趾）症”位点；其他候选基因包括参与外胚层/中胚层相互作用过程的发育基因。
