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[Acral purpura and hyperhomocysteinemia]
P Boeckler1, F Grange, S Krzisch
1Service de Dermatologie, Hôpital Pasteur, Colmar.
Insights
High homocysteine levels can cause rare skin conditions like acral purpura. Folic acid treatment effectively manages these cutaneous lesions and high homocysteine, preventing recurrence when consistently administered.
Area of Science:
- Dermatology
- Vascular Medicine
- Genetics
Background:
- Elevated homocysteine is linked to atherosclerosis and thrombosis.
- Cutaneous manifestations of hyperhomocysteinemia are exceptionally rare.
Observation:
- A 71-year-old man presented with acral purpura and onycholysis.
- Skin biopsy revealed dermal vessel thromboses without vasculitis.
- Genetic testing identified a methylene-tetrahydrofolate-reductase gene mutation causing severe hyperhomocysteinemia.
Findings:
- Folic acid therapy normalized homocysteine levels and resolved skin lesions.
- Discontinuation of folic acid led to recurrence of both hyperhomocysteinemia and purpura.
- The patient had no other identified causes for purpura or thrombophilia.
Implications:
- Hyperhomocysteinemia likely plays a causal role in this unique presentation of acral purpura.
- Screening for hyperhomocysteinemia is recommended for patients with cutaneous lesions due to distal vascular thromboses.
- Effective treatment with folic acid highlights the importance of identifying this metabolic disorder.
Introduction:
Increased level of homocysteine has been shown to be associated with atherosclerotic disease and venous thrombosis. There are only exceptional reports of cutaneous disease due hyperhomocysteinemia.
Case Report:
A 71-year-old man presented with an acral purpura mainly located under the nail plates and resulting in onycholysis. Histologic examination of a skin biopsy specimen showed thromboses of dermal vessels without vasculitis. Laboratory tests revealed highly elevated homocysteinemia due to a mutation in the methylene-tetra-hydrofolate-reductase gene. No other cause of purpura or thrombophilia was found. When oral folic acid was given, both homocysteinemia and cutaneous lesions were controlled. However, a biological and clinical recurrence occurred when therapy was discontinued.
Discussion:
Hyperhomocysteinemia has probably a causal role in this original case of acral purpura. Since treatment is effective, the detection of hyperhomocysteinemia should be proposed in patients with cutaneous lesions secondary to distal vascular thromboses.