{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T08:10:01Z","timestamp":1756282201512,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,3,20]]},"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:p>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\u2014[6S]-5-MTHF\u2014with 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.<\/jats:p>","DOI":"10.1136\/bcr-2018-228403","type":"journal-article","created":{"date-parts":[[2019,4,23]],"date-time":"2019-04-23T16:12:59Z","timestamp":1556035979000},"page":"e228403","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Pyoderma gangrenosum-like lesion secondary to methylenetetrahydrofolate reductase mutation: an unusual presentation of a rare disease"],"prefix":"10.1136","volume":"12","author":[{"given":"Yana","family":"Turkowski","sequence":"first","affiliation":[{"name":"Center for Blistering Diseases, Boston, Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syed","family":"Razvi","sequence":"additional","affiliation":[{"name":"The Center for Wound Care and Hyperbaric Medicine, Elliot Hospital, Manchester, New Hampshire, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdul Razzaque","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Center for Blistering Diseases, Boston, Massachusetts, USA"},{"name":"Department of Dermatology, Tufts University School of Medicine, Boston, Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,4,23]]},"reference":[{"key":"2025082700562214000_12.4.e228403.1","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s10354-014-0285-x","article-title":"Pyoderma gangrenosum: pathogenetic oriented treatment approaches","volume":"164","author":"Wollina","year":"2014","journal-title":"Wien Med Wochenschr"},{"key":"2025082700562214000_12.4.e228403.2","doi-asserted-by":"crossref","first-page":"138","DOI":"10.7181\/acfs.2014.15.3.138","article-title":"Importance of accurate diagnosis in pyoderma gangrenosum","volume":"15","author":"Kim","year":"2014","journal-title":"Arch Craniofac Surg"},{"key":"2025082700562214000_12.4.e228403.3","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2011.77"},{"key":"2025082700562214000_12.4.e228403.4","doi-asserted-by":"crossref","first-page":"e282","DOI":"10.1016\/j.jaad.2012.06.024","article-title":"Skin ulcers mimicking pyoderma gangrenosum in a patient with MTHFR polymorphism","volume":"67","author":"Rubio-Gonz\u00e1lez","year":"2012","journal-title":"J Am Acad Dermatol"},{"key":"2025082700562214000_12.4.e228403.5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1476-5381.2009.00492.x"},{"key":"2025082700562214000_12.4.e228403.6","doi-asserted-by":"publisher","DOI":"10.2174\/1381612811319140008"},{"key":"2025082700562214000_12.4.e228403.7","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.333.7560.181"},{"key":"2025082700562214000_12.4.e228403.8","doi-asserted-by":"crossref","first-page":"205","DOI":"10.3892\/mmr_000000241","article-title":"Genetic risk factors of chronic venous leg ulceration: can molecular screening aid in the prevention of chronic venous insufficiency complications?","volume":"3","author":"Grzela","year":"2010","journal-title":"Mol Med Rep"},{"key":"2025082700562214000_12.4.e228403.9","first-page":"275","article-title":"Biochemistry of homocysteine in health and diseases","volume":"43","author":"Ramakrishnan","year":"2006","journal-title":"Indian J Biochem Biophys"},{"key":"2025082700562214000_12.4.e228403.10","doi-asserted-by":"crossref","unstructured":"Servy E , Menezo Y . The Methylene Tetrahydrofolate Reductase (MTHFR) isoform challenge. High doses of folic acid are not a suitable option compared to 5 Methyltetrahydrofolate treatment. Clin Obstet Gynecol Reprod Med 2017;3.doi:10.15761\/COGRM.1000204","DOI":"10.15761\/COGRM.1000204"},{"key":"2025082700562214000_12.4.e228403.11","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1093\/ajcn\/79.3.473","article-title":"Supplementation with [6S]-5-methyltetrahydrofolate or folic acid equally reduces plasma total homocysteine concentrations in healthy women","volume":"79","author":"Lamers","year":"2004","journal-title":"Am J Clin Nutr"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-228403","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T07:56:30Z","timestamp":1756281390000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-228403"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4]]},"references-count":11,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2019,4,23]]},"published-print":{"date-parts":[[2019,4]]}},"alternative-id":["10.1136\/bcr-2018-228403"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-228403","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2019,4]]}}}