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Pyoderma gangrenosum-like lesion secondary to methylenetetrahydrofolate reductase mutation: an unusual presentation of a rare disease
  1. Yana Turkowski1,
  2. Syed Razvi2 and
  3. Abdul Razzaque Ahmed3,4
  1. 1 Center for Blistering Diseases, Boston, Massachusetts, USA
  2. 2 The Center for Wound Care and Hyperbaric Medicine, Elliot Hospital, Manchester, New Hampshire, USA
  3. 3 Department of Dermatology, Center for Blistering Diseases, Boston, Massachusetts, USA
  4. 4 Department of Dermatology, Tufts University School of Medicine, Boston, Massachusetts, USA
  1. Correspondence to Dr Abdul Razzaque Ahmed, arahmedmd{at}


Pyoderma gangrenosum (PG)-like ulcerations are a rare clinical manifestation of methylenetetrahydrofolate reductase (MTHFR) mutation. We describe a patient considered to have PG who was treated with long-term high doses of systemic corticosteroids and multiple immunosuppressive agents for several years. In spite of this continuous aggressive therapy, the lesions did not improve but continued to get worse. She developed many significant and catastrophic side effects to them. When referred to our dermatology centre, on investigation, it was discovered that she has an MTHFR mutation. It seemed reasonable to presume that PG-like lesions were related to it. Treatment with a biologically active form of folate—[6S]-5-MTHF—with vitamins B6 and B12 was initiated. It was considered to be beneficial and capable of reducing hyperhomocysteinaemia and endothelial damage consequent from it. Since the institution of this treatment, the patient has begun to show very gradual but slow and incremental improvement.

  • genetics
  • dermatology
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  • Contributors ARA designed the case study, collected the clinical data and laboratory tests, and participated in their analysis and writing of this manuscript. SR participated in the treatment of the patient, acquisition of the clinical data and biopsies, and analysis and interpretation of results. He was also involved in the oversight and review of the writing. YT was involved in ordering the various laboratory tests including genetic testing. She played a critical role in the interpretation of the genetic data, collection of other ancillary tests and information from other physicians involved in the care of the patient. She also played an important role in preparing the figures and writing the manuscript. All the three authors had access to all the material at all times and opportunity to provide their input at every stage.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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