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Keywords:

  • genetics;
  • lymphoedema;
  • yellow nail syndrome

Summary

Background  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.

Objectives  To conduct a retrospective survey investigating the genetic basis of YNS.

Methods  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.

Results  Only one of the 11 patients had a relevant FH. In addition, four patients had complete recovery of their nail changes.

Conclusions  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.