Wijerathne Buddhika T B, Meier Robert J, Agampodi Suneth B
Department of Community Medicine, Faculty of Medicine and Allied Sciences, Rajarata University of Sri Lanka, Saliyapura, 50008, Anuradhapura, Sri Lanka.
Department of Anthropology, Indiana University, Bloomington, IN, 47405, USA.
J Med Case Rep. 2016 Sep 20;10(1):258. doi: 10.1186/s13256-016-1048-7.
Tel Hashomer camptodactyly syndrome is a rare disease and only a few cases have been reported. Dermatoglyphics potentially provide relevant phenotypic biomarkers that were initially noted as a vital clinical feature of this disease. Dermatoglyphics possibly can indicate growth disturbances that took place during early fetal development at the time when epidermal ridges were being formed into discernable patterns. Consequently, these intrauterine effects might well have occurred in association with the expression of the Tel Hashomer camptodactyly syndrome. Therefore, this review was undertaken to provide, as far as we know, the first attempt to broadly assess dermatoglyphic features that are connected with the Tel Hashomer camptodactyly syndrome. If a developmental association between dermatoglyphics and Tel Hashomer camptodactyly can be firmly established, this would probably document that Tel Hashomer camptodactyly disease has its origins during the early fetal period.
A systematic literature search was conducted using articles from PubMed (Medline), POPLINE, Trip Database, Cochrane Library, and gray literature up to 31 March 2015. The review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement.
Fourteen relevant publications were included in the review. There were 23 cases of patients with Tel Hashomer camptodactyly syndrome that were described in these published articles. We reviewed the dermatoglyphics of 21 available cases out of all of the published and electronically available cases of Tel Hashomer camptodactyly. Eight cases reported whorls to be the most common digital pattern with an expected rise of ridge count. Two cases show significantly high frequencies of arch patterns. Further, there were increased numbers of palmar creases, along with abnormal flexion creases or other palmar dermatoglyphic abnormalities reported in all cases.
This review highlighted the desirability of thoroughly observing and recording dermatoglyphic features when reporting on future patients with Tel Hashomer camptodactyly syndrome, in conjunction with carrying out modern molecular methods.
泰尔哈绍梅尔屈曲指综合征是一种罕见疾病,仅有少数病例报道。皮纹学有可能提供相关的表型生物标志物,最初它被视为该疾病的一项重要临床特征。皮纹学可能指示了在胎儿早期发育阶段,即表皮嵴形成可识别图案时发生的生长紊乱。因此,这些子宫内效应很可能与泰尔哈绍梅尔屈曲指综合征的表现有关。所以,据我们所知,本综述首次广泛评估了与泰尔哈绍梅尔屈曲指综合征相关的皮纹特征。如果皮纹学与泰尔哈绍梅尔屈曲指之间的发育关联能够得到确切证实,这可能会证明泰尔哈绍梅尔屈曲指疾病起源于胎儿早期。
使用截至2015年3月31日来自PubMed(医学索引)、POPLINE、Trip数据库、Cochrane图书馆以及灰色文献的文章进行系统的文献检索。本综述按照系统评价和Meta分析的首选报告项目声明进行。
该综述纳入了14篇相关出版物。这些已发表文章中描述了23例泰尔哈绍梅尔屈曲指综合征患者。我们回顾了所有已发表及可通过电子方式获取的泰尔哈绍梅尔屈曲指病例中21例可用病例的皮纹情况。8例报告称涡状纹是最常见的指纹图案,且嵴纹计数预期增加。2例显示弓形纹频率显著较高。此外,所有病例均报告手掌褶痕数量增加,伴有异常屈曲褶痕或其他手掌皮纹异常。
本综述强调,在报告未来的泰尔哈绍梅尔屈曲指综合征患者时,结合现代分子方法,全面观察和记录皮纹特征是很有必要的。