What question did this study set out to answer?

This case report aims to explore the association between a VIM gene variant and the co-occurrence of livedoid vasculopathy, premature canities, and early-onset cataracts.

May 19, 2026Open Access

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

Key Points

This case report aims to explore the association between a VIM gene variant and the co-occurrence of livedoid vasculopathy, premature canities, and early-onset cataracts.
Whole-exome sequencing identified a heterozygous VIM variant (chr10:17277378) in the patient and his mother.
Patient presented with a unique combination of symptoms including livedoid vasculopathy, premature canities, and early-onset cataracts.
Tofacitinib therapy was administered for 3 months to assess improvement in skin lesions.
The patient showed significant improvement in skin ulcers after 3 months of tofacitinib treatment.
Both the patient and mother carried the heterozygous VIM variant, while the father was wild-type.
The combination of LV, premature canities, and EOC was a novel finding in connection with VIM variants.

Abstract

Zhujing Zhu, Huanru Qu Department of Rheumatology and Immunology, Longhua Hospital Shanghai University of Traditional Chinese Medicine, Shanghai, 200032, Peopleâs Republic of ChinaCorrespondence: Huanru Qu, Email qhrₜgyx@126. comBackground: 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 patientâs 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. Keywords: livedoid vasculopathy, early-onset cataract, premature canities, tofacitinib, case report

AIに質問

Bookmark

View Full Paper