Which are the symptoms of Mal de Meleda?

Symptoms of Mal de Meleda

Mal de Meleda, also known as Meleda disease, is a rare genetic disorder that primarily affects the skin. It is characterized by thickening of the skin on the palms of the hands and soles of the feet, which gradually extends to other parts of the body. The condition is named after the Croatian island of Meleda, where it was first described.

Hyperkeratosis is the hallmark symptom of Mal de Meleda. It refers to the excessive production of keratin, a tough protein that forms the outer layer of the skin. This leads to the development of thick, scaly plaques on the palms and soles, which can be yellowish or brownish in color. The hyperkeratosis may also affect the nails, causing them to become thickened and deformed.

Individuals with Mal de Meleda may experience symmetrical thickening of the skin on both hands and feet. The plaques can be itchy and may cause discomfort or pain, especially when walking or using the hands for prolonged periods. In some cases, the thickened skin can crack, leading to fissures that may be prone to infection.

As the condition progresses, the hyperkeratosis may spread to other areas of the body, such as the knees, elbows, and trunk. The skin on these regions may also become thickened and develop scaly plaques. However, the face, scalp, and mucous membranes are typically spared.

In addition to skin abnormalities, individuals with Mal de Meleda may experience hyperhidrosis, which is excessive sweating. This can be particularly pronounced on the palms and soles, contributing to the moist environment that exacerbates the thickening of the skin.

Mal de Meleda is an autosomal recessive disorder, meaning that both parents must carry a mutated gene for their child to be affected. The condition is caused by mutations in the ARS (arsenite transporter ATP-binding protein) gene, which is involved in the transport of arsenic. However, the exact mechanisms by which these mutations lead to the characteristic skin changes are not fully understood.

Diagnosis of Mal de Meleda is typically based on clinical examination and the characteristic appearance of the skin. Genetic testing can confirm the diagnosis by identifying mutations in the ARS gene.

Unfortunately, there is currently no cure for Mal de Meleda. Treatment aims to manage the symptoms and improve quality of life. This may involve regular use of emollients and keratolytic agents to soften and remove the thickened skin. In severe cases, surgical intervention may be considered to reduce the thickness of the affected areas.

In conclusion, Mal de Meleda is a rare genetic disorder characterized by hyperkeratosis, primarily affecting the palms and soles. The thickened skin can cause discomfort, pain, and functional limitations. Early diagnosis and appropriate management can help alleviate symptoms and improve the quality of life for individuals with this condition.