Livedoid vasculopathy with hyperhomocysteinemia due to MTHFR mutation

In Kyung Jeon, Bo Kyung Kim, Hae Jin Lee, Hannah Hong, Eung Ho Choi

Research output: Contribution to journalArticle

Abstract

Livedoid vasculopathy is a hyalinizing vascular disease characterized by thrombosis and ulceration of the lower extremities. It can be caused by an alteration in control of coagulation with the formation of thrombi within dermal blood vessels. We report a case of livedoid vasculopathy with hyperhomocysteinemia due to MTHFR mutation, which is treated by folic acid and which also showed very unusual clinical manifestations. A 38-year-old male visited the department of dermatology with a 1 year history of purplish-brown purpura with punched-out ulcers on both lower legs. He had a history of homocysteinemia due to methylene tetrahydrofolate reductase (MTHFR) mutation. The histopathologic findings of the lesional skin revealed dense superficial and deep perivascular and perifollicular infiltrates of lymphocytes and fibrin deposition within the vessels in the dermis. On the basis of clinical and pathological findings, livedoid vasculopathy with hyperhomocysteinemia due to MTHFR mutation was diagnosed and unproved by the treatment of 1 mg of folic acid daily.

Original languageEnglish
Pages (from-to)276-279
Number of pages4
JournalKorean Journal of Dermatology
Volume51
Issue number4
Publication statusPublished - 2013 Apr 1

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Methylenetetrahydrofolate Reductase (NADPH2)
Hyperhomocysteinemia
Folic Acid
Mutation
Thrombosis
Skin
Purpura
Dermis
Dermatology
Fibrin
Vascular Diseases
Ulcer
Blood Vessels
Lower Extremity
Leg
Lymphocytes

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

Jeon, In Kyung ; Kim, Bo Kyung ; Lee, Hae Jin ; Hong, Hannah ; Choi, Eung Ho. / Livedoid vasculopathy with hyperhomocysteinemia due to MTHFR mutation. In: Korean Journal of Dermatology. 2013 ; Vol. 51, No. 4. pp. 276-279.
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Jeon, IK, Kim, BK, Lee, HJ, Hong, H & Choi, EH 2013, 'Livedoid vasculopathy with hyperhomocysteinemia due to MTHFR mutation', Korean Journal of Dermatology, vol. 51, no. 4, pp. 276-279.

Livedoid vasculopathy with hyperhomocysteinemia due to MTHFR mutation. / Jeon, In Kyung; Kim, Bo Kyung; Lee, Hae Jin; Hong, Hannah; Choi, Eung Ho.

In: Korean Journal of Dermatology, Vol. 51, No. 4, 01.04.2013, p. 276-279.

Research output: Contribution to journalArticle

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