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The use of B vitamins for cutaneous ulcerations mimicking pyoderma gangrenosum in patients with MTHFR polymorphism

Douglas New1, Philip Eaton, Al Knable

  • 1Division of Dermatology, University of Louisville, Louisville, KY 40202, USA.

Archives of Dermatology
|April 13, 2011
PubMed
Abstract

Insights

Methylenetetrahydrofolate reductase (MTHFR) gene variations can cause blood clotting issues leading to skin ulcers. Supplementing with B vitamins (folic acid, B6, B12) may help heal these ulcers in patients with MTHFR mutations.

Area of Science:

  • Genetics
  • Dermatology
  • Hematology

Background:

  • Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms are linked to thrombophilia and vasculopathy, potentially causing skin ulcerations.
  • Pyoderma gangrenosum (PG) is diagnosed after excluding other causes of ulcers, such as vascular disease, infection, or cancer.

Observation:

  • Two patients with MTHFR polymorphisms presented with lower extremity cutaneous ulcerations during hypercoagulable workup.
  • Both patients experienced rapid improvement with oral vitamin supplementation (B9, B6, B12) and local wound care.
  • One patient's ulcers recurred upon discontinuing therapy, healing again after reinitiation, with no adverse effects.

Findings:

  • MTHFR polymorphisms are associated with recurrent cutaneous ulcerations.
  • Vitamin supplementation (folic acid, B6, B12) can effectively treat ulcers in patients with MTHFR mutations.
  • Treatment with B vitamins was well-tolerated.

Implications:

  • MTHFR gene testing should be considered in hypercoagulable evaluations for unexplained skin ulcers.
  • Vitamin B supplementation offers a potential therapeutic strategy for MTHFR-associated cutaneous ulcerations.
  • This highlights the link between genetic factors, coagulation, and dermatological conditions.

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