Sneddon syndrome with factor V Leiden, methylene tetrahydrofolate reductase and FMF gene mutations

Abstract

Sneddon syndrome (SNS), characterized by livedo racemosa and stroke, is a rare disease, especially in young adults. Livedo racemosa are large lesions, widespread on the extremities and the body, that are violet-colored and have a good appearance and ambiguous limits. A 33-years-old female presented to our clinic for headache. She had a two-year history of blue-purple skin marks on her body and legs. The skin lesions were consistent with livedo racemosa. She had experienced right hemiparesis according to her medical history. Factor V Leiden (G1691A) mutation was heterozygote-positive. Methylenetetrahydrofolate reductase (MTHFR) C677T and FMF gene (MEFV) V726A mutations were determined. SNS is the cause of stroke, rarely seen in young adults. We considered this case to be of value since it is the first SNS case having factor V Leiden, MTHFR and MEFV mutations concomitantly.