Related Experiment Video

Updated: Sep 23, 2026

Isolation of Primary Mouse Retinal Pigmented Epithelium Cells
06:21

Isolation of Primary Mouse Retinal Pigmented Epithelium Cells

Published on: November 4, 2022

[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
PubMed

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.
Abstract

More Related Videos

The Antihypertensive Effects and Mechanisms of Huotan Jiedu Tongluo Decoction in Rats with H-Type Hypertension05:57

The Antihypertensive Effects and Mechanisms of Huotan Jiedu Tongluo Decoction in Rats with H-Type Hypertension

Published on: May 17, 2024

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Related Concept Videos

Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers01:19

Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers

Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
Disorders of Hemostasis01:24

Disorders of Hemostasis

Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Endocarditis II: Clinical Features of Infective Endocarditis01:25

Endocarditis II: Clinical Features of Infective Endocarditis

Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
Jaundice01:25

Jaundice

Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...