Otsuki Yuki, Ueda Koichi, Nuri Takashi, Satoh Chisei, Maekawa Ryuta, Yoshiura Koh-Ichiro
Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka.
Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Medicine (Baltimore). 2020 Oct 30;99(44):e22816. doi: 10.1097/MD.0000000000022816.
Ectrodactyly ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are caused by a TP63 gene disorder and have similar features. In the present article, a R319H mutation in TP63 is reported, and the correlation between genotype and phenotype is discussed based on the current case and previous literature.
A 13-year-old Japanese boy had ectrodactyly in the right hand and left foot and syndactyly in the left and right foot, and tooth shape abnormalities.
Peripheral blood samples were obtained, and mutation analysis was performed. A heterozygous G>A transition at cDNA position 956 of the TP63 gene was found. The patient was diagnosed with ELA (EEC/LM/ADULT) syndrome based on his clinical features and mutation analysis results.
The patient underwent surgery to correct the left foot malformation at 1 year of age and the right foot syndactyly at 11 years of age.
No complications were observed after the first and second operations. He can walk comfortably after them, and no additional interventions will be planned in him. We continued to follow up with him up to the present.
The concept of ELA syndrome, which is the original concept of combining 3 syndromes (EEC syndrome/LMS/ADULT syndrome) into a unique clinical entity, can help clinicians to better understand TP63-related syndromes and improve the differential diagnosis of these syndromes.
缺指（趾）-外胚层发育不良-唇腭裂（EEC）综合征、肢体-乳腺综合征（LMS）和肢端-皮肤-甲-泪腺-齿（ADULT）综合征均由TP63基因紊乱引起，且具有相似特征。在本文中，报告了TP63基因中的R319H突变，并根据当前病例和既往文献讨论了基因型与表型之间的相关性。
一名13岁的日本男孩右手和左脚存在缺指（趾）畸形，左右脚并指（趾）畸形，且牙齿形状异常。
采集外周血样本并进行突变分析。发现TP63基因cDNA位置956处存在杂合的G>A转换。根据患者的临床特征和突变分析结果，诊断为ELA（EEC/LM/ADULT）综合征。
患者1岁时接受了左脚畸形矫正手术，11岁时接受了右脚并指（趾）畸形矫正手术。
第一次和第二次手术后均未观察到并发症。术后他可以舒适地行走，且不会对其计划额外的干预措施。我们一直对他进行随访至今。
ELA综合征的概念，即将3种综合征（EEC综合征/LMS/ADULT综合征）合并为一个独特临床实体的原始概念，有助于临床医生更好地理解与TP6３相关的综合征，并改善这些综合征的鉴别诊断。
