Otsuki Yuki, Ueda Koichi, Satoh Chisei, Maekawa Ryuta, Yoshiura Koh-Ichiro, Iseki Sachiko
Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka, Japan; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan; and Section of Molecular Craniofacial Embryology, Graduate School of Medical and Dental Sciences, Tokyo, Japan.
Plast Reconstr Surg Glob Open. 2016 Dec 22;4(12):e1185. doi: 10.1097/GOX.0000000000001185. eCollection 2016 Dec.
A patient who had ectrodactyly, dry skin, exfoliative dermatitis, and hypodontia with peg-shaped teeth, but not cleft lip and palate, is described. Ectrodactyly with a tooth anomaly is recognized in both acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome. These 2 syndromes are caused by heterozygous mutations in the transcriptional factor gene . Mutation analysis of gene showed a heterozygous mutation c.728G>A, p.Arg243Gln (previously referred to as R204Q) in the patient, but not in his parents. Therefore, this was a sporadic case of the mutation-associated disorder. Although the mutation has been mostly reported in EEC syndrome patients, the present case did not have cleft lip and palate. Furthermore, the present case did not exhibit freckling or some of the other ectodermal dysplasia phenotypes typical of ADULT syndrome. The concept of ELA syndrome proposed by Prontera in 2011 resolves the problem confronted in diagnosing the present case. ELA syndrome is an acronym of EEC/limb-mammary syndrome/ADULT syndromes, and these 3 syndromes are united into a unique entity. This system can classify mutation-associated disorders simply without interfering with treatment.
本文描述了一名患有缺指（趾）畸形、皮肤干燥、剥脱性皮炎、牙量减少伴钉状牙，但无唇腭裂的患者。在肢端-皮肤-甲-泪腺-牙（ADULT）综合征和缺指（趾）-外胚层发育不良-腭裂（EEC）综合征中均发现了伴有牙齿异常的缺指（趾）畸形。这两种综合征是由转录因子基因的杂合突变引起的。对该基因的突变分析显示，患者存在杂合突变c.728G>A，p.Arg243Gln（以前称为R204Q），但其父母未检测到该突变。因此，这是一例与该突变相关疾病的散发病例。尽管该突变大多在EEC综合征患者中报道，但本病例无唇腭裂。此外，本病例未出现雀斑或ADULT综合征典型的其他一些外胚层发育不良表型。Prontera在2011年提出的ELA综合征概念解决了诊断本病例时遇到的问题。ELA综合征是EEC/肢体-乳腺综合征/ADULT综合征的首字母缩写，这三种综合征被归为一个独特的实体。该系统可以简单地对与该突变相关的疾病进行分类，而不干扰治疗。
