Hoque S R, Mansour S, Mortimer P S
Department of Dermatology, St Helier Hospital, Carshalton, Surrey, UK.
Br J Dermatol. 2007 Jun;156(6):1230-4. doi: 10.1111/j.1365-2133.2007.07894.x. Epub 2007 Apr 25.
Yellow nail syndrome (YNS) is characterized by the triad of characteristic nail changes, chronic respiratory disorders and primary lymphoedema. Over 100 cases have been published, most of which have been sporadic. Despite this, YNS is classified as a dominantly inherited lymphoedema with variable expression. There have been only a few published reports where a positive family history (FH) has been documented in cases of YNS.
To conduct a retrospective survey investigating the genetic basis of YNS.
The notes of 11 patients diagnosed with YNS were examined for documentation of a positive FH, and in addition a postal questionnaire was sent to these patients.
Only one of the 11 patients had a relevant FH. In addition, four patients had complete recovery of their nail changes.
This is the first retrospective study of YNS to document clear remission of nail changes. The lack of a positive FH in the majority of patients in our study, the late onset of the disease and recovery of nail changes in our patients suggest that YNS may not be primarily a genetic disease as it is currently classified.
黄甲综合征(YNS)的特征为三联征,即特征性指甲改变、慢性呼吸系统疾病和原发性淋巴水肿。已发表100多例病例,其中大多数为散发病例。尽管如此,YNS仍被归类为具有可变表达的显性遗传性淋巴水肿。仅有少数已发表的报告记录了YNS病例的阳性家族史(FH)。
进行一项回顾性调查,研究YNS的遗传基础。
检查11例诊断为YNS患者的病历,以记录阳性FH,此外还向这些患者发送了邮政问卷。
11例患者中只有1例有相关的FH。此外,4例患者的指甲改变完全恢复。
这是首次对YNS进行的回顾性研究,记录了指甲改变的明确缓解情况。我们研究中大多数患者缺乏阳性FH、疾病发病较晚以及患者指甲改变的恢复表明,YNS可能并非如目前分类那样主要是一种遗传性疾病。