New Douglas, Eaton Philip, Knable Al, Callen Jeffrey P
Division of Dermatology, University of Louisville, Louisville, KY 40202, USA.
Arch Dermatol. 2011 Apr;147(4):450-3. doi: 10.1001/archdermatol.2011.77.
Methylenetetrahydrofolate reductase (MTHFR) polymorphisms are associated with thrombophilia and vasculopathy that may result in cutaneous ulceration. Pyoderma gangrenosum (PG) is a clinical diagnosis that may be made following exclusion of alternate causes of ulceration, including vascular inflammatory or occlusive disease, infection, and malignant neoplasm.
We describe 2 patients with MTHFR polymorphisms discovered during hypercoagulable evaluation for cutaneous ulcerations on the lower extremities. Both patients showed a rapid improvement following treatment with oral vitamin supplementation and local wound care. One patient developed several subsequent ulcers when he decided to discontinue his therapy, and following reinitiation of therapy, the new ulcerations healed. The treatment was tolerated well without any adverse effects.
MTHFR polymorphisms should be part of a comprehensive laboratory evaluation during hypercoagulable workup. Vitamin supplementation with folic acid (B(9)), pyridoxine hydrochloride (B(6)), and cyanocobalamin (B(12)) may result in healing of cutaneous ulcerations in some patients with MTHFR mutations.
亚甲基四氢叶酸还原酶（MTHFR）基因多态性与血栓形成倾向和血管病变有关，可能导致皮肤溃疡。坏疽性脓皮病（PG）是一种临床诊断，在排除溃疡的其他病因后做出，这些病因包括血管炎性或闭塞性疾病、感染和恶性肿瘤。
我们描述了2例在对下肢皮肤溃疡进行高凝评估期间发现MTHFR基因多态性的患者。两名患者在接受口服维生素补充剂和局部伤口护理治疗后均迅速好转。一名患者在决定停止治疗后出现了几处新的溃疡，重新开始治疗后，新的溃疡愈合。该治疗耐受性良好，无任何不良反应。
MTHFR基因多态性应作为高凝检查综合实验室评估的一部分。补充叶酸（B9）、盐酸吡哆醇（B6）和氰钴胺（B12）维生素可能使一些MTHFR突变患者的皮肤溃疡愈合。
