Svendsen Mathias, Henningsen Emil, Hertz Jens Michael, Vestergaard Grejsen Dorthe, Bygum Anette
Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense C, Denmark.
Acta Derm Venereol. 2014 Sep;94(5):531-3. doi: 10.2340/00015555-1799.
Ectodermal dysplasias form a complex, nosologic group of diseases with defects in at least 2 ectodermal structures. A retrospective study of patients with ectodermal dysplasia seen at our department over a period of 19 years (1994-2013) was performed. The study population consisted of 67 patients covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large ectodermal dysplasia cohort focusing on clinical manifestations in combination with mutational analysis. We recommend a nationwide study to estimate the prevalence of the ectodermal dysplasia and to ensure relevant molecular genetic testing which may form the basis of a national ectodermal dysplasia database.
外胚层发育异常是一组复杂的疾病分类，至少有两个外胚层结构存在缺陷。我们对1994年至2013年期间在我科就诊的外胚层发育异常患者进行了一项回顾性研究。研究人群包括67例患者，涵盖17种不同诊断。确定了45个家庭，其中26例为散发病例，无患病家庭成员。在27个接受检测的家庭中，23个家庭发现了致病突变。11种突变是新的突变。据我们所知，我们首次提出了一个以外胚层发育异常临床表现与突变分析相结合的大型队列研究。我们建议开展一项全国性研究，以估计外胚层发育异常的患病率，并确保进行相关的分子基因检测，这可能构成国家外胚层发育异常数据库的基础。
