Mal de Meleda
Description
Mal de Meleda, also known as keratosis palmoplantaris, is a rare, inherited skin disorder that primarily affects the palms of the hands and soles of the feet. This condition causes the skin in these areas to become thick, cracked, and scaly, leading to discomfort and difficulty with daily activities. While Mal de Meleda doesn‘t affect life expectancy, it can significantly impact quality of life. Understanding its symptoms, causes, and management options is crucial for individuals with this condition and their families.
Genes Involved
Mal de Meleda is caused by mutations in specific genes, primarily:
- GJB4 gene: This gene provides instructions for making a protein called connexin 30.2. Mutations in GJB4 disrupt this protein‘s function, leading to the skin abnormalities characteristic of Mal de Meleda.
- KRT16 gene: This gene plays a role in the formation of keratin, a protein found in the skin. Mutations in KRT16 can also contribute to Mal de Meleda.
- Other genes: In some cases, Mal de Meleda may be linked to mutations in other genes involved in skin development and function, but further research is needed to fully understand their role.
Recognizing the Signs and Symptoms
The most prominent symptom of Mal de Meleda is the thickening and cracking of the skin on the palms and soles. This often starts in early childhood and worsens with age. Other common signs include:
- Hyperkeratosis: Abnormal thickening of the skin, forming calluses or hard patches.
- Fissures: Deep cracks or splits in the skin, which can be painful and prone to infection.
- Erythema: Redness of the affected skin.
- Scaling: Flaking or peeling of the skin.
- Pain and discomfort: The thickened and cracked skin can cause pain, especially during activities that involve pressure on the hands or feet.
Causes
Mal de Meleda is caused by inherited genetic mutations, meaning it‘s passed down through families. It‘s an autosomal dominant condition, which means that only one copy of the mutated gene is required for the condition to develop. If one parent has the gene mutation, there‘s a 50% chance of their child inheriting it and developing Mal de Meleda.
Inheritance/recurrence risk
Mal de Meleda is an autosomal dominant condition, meaning that only one copy of the mutated gene is required for the condition to develop. If one parent has the gene mutation, there‘s a 50% chance of their child inheriting it and developing Mal de Meleda.
Since it‘s inherited, there‘s a risk of recurrence in future generations. Genetic counseling can help families understand the risks of passing the gene mutation on to their children.
