Adult Syndrome

成人综合征
  • 文章类型: Case Reports
    肩关节-指甲-泪腺(ADULT)综合征是一种罕见的常染色体显性遗传性疾病,由于TP63基因突变而引起。更常见的是,TP63基因的突变导致外胚层发育不良和/或口面部裂。成人综合征是一种外胚层相关的组织发育不良。这个病例报告描述了一个慢性流泪的病人,先天性闭锁,和泪管阻塞,是成人综合征的主要临床表现。该患者还表现出一些不同于成人综合征的临床表现,即,轻度的眼睑融合和第五指的异常发育(僵硬的第五指,弯曲的长度缩短)。该患者的基因突变也与文献中通常报道的位点不同。在这个病人身上,c.518G>T导致p.G173V(登录号:NM_003722;外显子4)。我们成功地进行了泪囊鼻腔吻合术和人工泪道植入术。如上所示,我们详细讨论了该疾病的临床特征和遗传学。在分享这个案例时,我们旨在有助于目前对ADULT综合征的基因和临床表现的了解,并协助临床医师临床诊断TP63突变相关疾病.
    Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare autosomal dominant inherited disease caused due to mutations in the TP63 gene. More commonly, mutations in the TP63 gene result in ectodermal dysplasia and/or orofacial cleft. ADULT syndrome is a type of ectoderm-related tissue dysplasia. This case report describes a patient with chronic tearing, congenital atresia, and obstruction of the lacrimal ducts, which are the main clinical manifestations of ADULT syndrome. This patient also presented with some clinical manifestations that were different from those of ADULT syndrome, namely, mild eyelid fusion and abnormal development of the fifth finger (a stiff fifth finger with camptodactyly that was shortened in length). The gene mutation in this patient was also at a site different from those usually reported in the literature. In this patient, c.518G > T resulted in p. G173V (accession number: NM_003722; exon4). We performed successful dacryocystorhinostomy and artificial lacrimal duct implantation. As shown above, we discussed the clinical characteristics and genetics of the disease in detail. In sharing this case, we aim to contribute to the current understanding of the genes and clinical manifestations of ADULT syndrome and to assist clinicians in the clinical diagnosis of TP63 mutation-related diseases.
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