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[Acral purpura and hyperhomocysteinemia]
P Boeckler1, F Grange, S Krzisch
1Service de Dermatologie, Hôpital Pasteur, Colmar.
Annales De Dermatologie Et De Venereologie
|July 5, 2003
Summary
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.