Summary about Disease
Erythrokeratodermia Variabilis (EKV) is a rare inherited skin disorder characterized by two main features: well-defined, red, scaling plaques (erythrokeratoderma) that are relatively fixed in location, and transient, migratory patches of redness (erythema variabilis). The condition typically presents in infancy or early childhood and persists throughout life, although the severity can fluctuate. It affects both males and females equally.
Symptoms
The primary symptoms of EKV include:
Fixed Erythrokeratoderma: These are sharply demarcated, red-brown, scaly plaques that persist in specific areas of the body. Common locations include the face, trunk, and extremities. The scaling can vary in severity.
Erythema Variabilis: These are transient, migratory patches of redness that appear and disappear spontaneously, often in a matter of hours or days. They can be triggered by various factors such as temperature changes, emotional stress, or physical activity. The shape and location of these patches are highly variable.
Causes
EKV is caused by mutations in the GJB3 or *GJB4* genes. These genes provide instructions for making proteins called connexins, specifically connexin-31 and connexin-30.3, respectively. These connexins form channels (gap junctions) that allow communication between skin cells. Mutations in these genes disrupt the normal function of these channels, leading to abnormal skin cell growth and differentiation, resulting in the characteristic features of EKV. The condition is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is sufficient to cause the disorder.
Medicine Used
There is no cure for EKV, and treatment focuses on managing the symptoms. Common treatments include:
Emollients: Moisturizers and creams to hydrate the skin and reduce scaling.
Topical Corticosteroids: To reduce inflammation and redness in the fixed plaques.
Topical Retinoids: such as tazarotene, to help normalize skin cell growth.
Oral Retinoids: Such as acitretin, may be used for more severe cases of erythrokeratoderma. Side effects need to be monitored.
Calcipotriol: Vitamin D analogue.
Other Treatments: Depending on severity, other topical or systemic treatments could be prescribed.
Is Communicable
No, EKV is not communicable. It is a genetic disorder and cannot be spread from person to person through contact.
Precautions
While there are no specific precautions to prevent EKV (as it is a genetic condition), managing symptoms and minimizing triggers for erythema variabilis are important. This includes:
Avoiding triggers: Identifying and avoiding factors that trigger the transient erythema (e.g., temperature changes, stress).
Skin care: Consistent use of emollients and other prescribed topical medications.
Sun protection: Protecting the skin from excessive sun exposure.
Gentle Cleansing: Using mild, non-irritating cleansers.
How long does an outbreak last?
The fixed plaques of erythrokeratoderma are persistent and generally do not "outbreak" in the typical sense. They are present chronically. The erythema variabilis component, however, is characterized by transient patches of redness that can appear and disappear within hours to days. The duration of these episodes is variable and depends on individual triggers and factors.
How is it diagnosed?
EKV is typically diagnosed based on:
Clinical Examination: Characteristic skin findings (fixed erythrokeratoderma and transient erythema variabilis).
Family History: A history of similar skin conditions in the family.
Skin Biopsy: A biopsy of the affected skin can show characteristic histological features.
Genetic Testing: Genetic testing for mutations in the GJB3 or *GJB4* genes can confirm the diagnosis.
Timeline of Symptoms
Infancy/Early Childhood: Onset of symptoms is usually in infancy or early childhood. The fixed plaques of erythrokeratoderma and the transient erythema variabilis typically appear during this time.
Childhood/Adolescence: The condition persists throughout childhood and adolescence. The severity of symptoms can fluctuate.
Adulthood: The condition continues into adulthood. While the symptoms remain chronic, the severity may vary over time.
Important Considerations
Genetic Counseling: Individuals with EKV may benefit from genetic counseling to understand the inheritance pattern and the risk of passing the condition on to their children.
Psychological Impact: Chronic skin conditions can have a significant psychological impact. Support groups or counseling may be beneficial.
Differential Diagnosis: EKV needs to be differentiated from other skin conditions with similar features.
Long-term Management: EKV requires ongoing management to control symptoms and improve the quality of life.