VIM Gene Variant Association to the Co-Occurrence of Livedoid Vasculopathy, Premature Canities, and Early-Onset Cataracts, and Preliminary Efficacy of Tofacitinib: A Case Report.

BACKGROUND: Livedoid vasculopathy (LV) is a rare thrombotic vasculopathy characterized by ischemic lesions and painful skin ulcerations of the lower limbs. This report describes a male patient who presented with a novel co-presentation of LV, premature canities, and early-onset cataracts (EOC), a triad of symptoms not previously described in the context of vimentin (VIM) variants.

CASE PRESENTATION: A 37-year-old male with an 8-year history of histopathologically confirmed LV also presented with premature canities and EOC. His mother had similar manifestations, including LV, premature canities, and EOC, suggesting a possible genetic etiology. Whole-exome sequencing revealed a heterozygous variant in the VIM gene (chr10:17277378) in the patient, while his mother was also heterozygous, and the father was wild-type. After 3 months of tofacitinib therapy, the patient's skin ulcers significantly improved.

CONCLUSION: This case report highlights the first described co-presentation of a VIM variant with the triad of LV, premature canities, and EOC. The observed clinical improvement with tofacitinib is a preliminary finding that warrants further investigation as a potential therapeutic option for LV in this unique clinical context.