Mal de Meleda - Causes, Symptoms, Diagnosis, and Treatment

Introduction:

Mal de Meleda is a congenital (present at birth) skin condition characterized by progressive palmoplantar keratoderma (excessive thickening of the epidermal layer of soles and palms). As a result, the palms, soles, wrists, ankles, and other body parts may become thickened. These thickened areas often get infected by fungus and are characterized by excessive sweating. The condition is easily diagnosed at birth after studying the physical signs and symptoms. The characteristic signs of mal de Meleda include dry skin on hands and feet, skin peeling, thickening of the skin, and red discoloration.

What Is Mal de Meleda?

Mal de Meleda (or Meleda disease) is an uncommon skin condition that manifests in early childhood or infancy. People affected have a disorder called palmoplantar keratoderma (excessive thickening of the epidermal layer of soles and palms), which causes the skin on their palms and soles to thicken, harden, and be callused. The wrists, ankles, and backs of the hands and feet are also affected by this condition, and the skin on these areas also becomes thick. Affected individuals may also have rough, thick pads on their elbows, knees, finger joints, and toe joints. The thickened skin affected by mal de Meleda disease frequently develops a fungal infection, which also causes a typical odor. Mal de Meleda is a birth defect (congenital condition) inherited in an autosomal recessive pattern.

What Are the Other Names of Mal de Meleda?

Alternative names of the condition are:

• Meleda disease.

• Mljet disease.

• Keratosis palmoplantaris.

• Transgradiens of Siemens.

• Acral keratoderma.

• Mutilating palmoplantar keratoderma of the Gamborg-Nielsen type.

• Palmoplantar ectodermal dysplasia type VIII.

• Acroerythrokeratoderma.

What Causes Mal de Meleda?

Mal de Meleda occurs due to:

• Mal de Meleda occurs due to variations (mutations) in the SLURP1 gene (secreted Ly6/uPAR-related protein-1). The SLURP1 gene gives instructions for producing a protein that reacts with other proteins (receptors) and is associated with signaling within cells.

• The SLURP-1 protein is suspected of playing a role in regulating the survival, maturation, development, and division of skin cells.

What Are the Symptoms of Mal de Meleda?

• The disease typically first manifests in the hands and feet, although it can also spread to other body regions.

• Dry, thick patches of skin that progress slowly can be found on the soles of the feet and the palms of the hands.

• The affected skin may seem red in hue before thickening and scalding abnormally.

• The hands or feet of a newborn will typically show signs of peeling, making it clear if they have this disease or not.

• The affected region extends to the wrists and ankles on the hands and feet.

• Recurrent fungal infections in the thicker skin occur in some mal de Meleda patients.

• Fungal infections affecting thickened skin may produce an unpleasant odor.

• Excessive sweating may occur because thick skin affects the sweat glands.

• The severity of symptoms may worsen as a person ages.

Is Mal de Meleda a Common Condition?

• Mal de Meleda is a rare condition, and the exact rate of incidence of the disease is still unknown.

• Since its initial discovery on the Croatian island of Mljet, the disorder has spread to populations worldwide.

How Is Mal de Meleda Diagnosed?

The diagnosis of mal de Meleda includes:

• The condition is usually diagnosed in early infancy because the baby will have a skin-peeling appearance on the hands and feet.

• The doctor can detect any abnormalities during a thorough examination by looking at the palms of the hands or the soles of the feet.

• Because this is a genetically inherited disease, family medical history can be useful in making a diagnosis.

• Genetic testing can be performed to establish the presence of mutations and confirm the condition.

• Before making a diagnosis, comparable skin disorders and these diseases must be ruled out. These other skin diseases that are similar to mal de Meleda include diffuse palmoplantar keratodermas, focal palmoplantar keratodermas, ichthyosis (dry and fish-scale skin), psoriasis (a skin condition that causes skin rash, itch, and scales), lichen planus (irritation and inflammation of the skin), etc.

How Is Mal de Meleda Treated?

Surgery, medication, topical creams, and lotions are all possible forms of treatment. Depending on the severity of the symptoms, each person receives a different course of treatment. Therefore, the treatment modalities of mal de Meleda include:

• Retinoids: Aromatic Retinoid Etretinate was the initial choice of drug used to treat mal de Meleda. However, it was discontinued because the drug had various adverse side effects and was associated with several congenital disabilities. Due to its severe adverse effects, Etretinate was replaced with Acitretin in America, where it is only used in extreme circumstances. It is advisable to wait at least three years after stopping Acitretin before getting pregnant or giving blood.

• Topical Lotions: Topical creams and lotions can help keep the skin hydrated and lessen skin flaking and peeling. These are generally safe to apply to the skin. However, irritation is one of the potential adverse effects.

What Is the Prognosis of Mal de Meleda?

The prognosis for those with this condition is favorable with treatment. However, it may be possible for the quality of life to decrease. Therefore, receiving treatment is advised. For some people, having excessively dry skin can hurt and be uncomfortable. Little information is available regarding a patient's life expectancy, although this illness does not shorten a person's life.

Conclusion:

Mal de Meleda is a rare skin condition characterized by the thickening of the skin of hands, feet, and other body areas. The condition is generally manageable, and with proper treatment, the disease has a good prognosis as well. Mal de Meleda is inherited in an autosomal recessive pattern (both copies of the gene in each cell have disease-causing variations). However, there has not been a universally standardized treatment for the condition. Retinoids, topical lotions, and surgery are all available treatments for this condition. Additionally, Etretinate and Acitretin have been shown to result in improvement frequently. Moreover, oral retinoids have proven to be a more effective form of treatment than topical lotions given directly to the afflicted skin.