Lisch nodules and iris mammillations in two siblings with familial legius syndrome

Clin Case Rep. 2020 Sep 1;8(10):1867-1871. doi: 10.1002/ccr3.2861. eCollection 2020 Oct.

Abstract

Legius syndrome is characterized by numerous café-au-lait macules and intertriginous freckling, but typically lacks the distinctive tumor manifestations of neurofibromatosis type 1. We report two siblings with Legius syndrome and Lisch nodules illustrating the importance of eye surveillance in these patients.

Keywords: NF1; SPRED1; café‐au‐lait macules; legius syndrome; lisch nodules; neurofibromatosis type 1; neurofibromatosis type 1‐like syndrome.

Publication types

  • Case Reports