Meleda disease

autorecessive

Meleda disease

Meleda disease, also known as Mal de Meleda, is a rare genetic disorder characterized by palmoplantar keratoderma, a condition that leads to thickening of the skin on the palms of the hands and the soles of the feet. This disorder is inherited in an autosomal recessive manner.

Signs and Symptoms

Individuals with Meleda disease typically present with symptoms in early infancy. The primary features include:

• Thickened, scaly skin on the palms and soles (palmoplantar keratoderma)
• Redness and inflammation of the affected areas
• Fissures and cracks in the thickened skin
• Hyperhidrosis (excessive sweating) of the palms and soles
• Nail abnormalities, such as thickening and discoloration

Genetics

Meleda disease is caused by mutations in the SLURP1 gene, which is located on chromosome 8. The SLURP1 gene is responsible for producing a protein that plays a role in the regulation of skin cell growth and differentiation. Mutations in this gene disrupt normal skin development, leading to the symptoms observed in Meleda disease.

Diagnosis

Diagnosis of Meleda disease is primarily based on clinical evaluation and the characteristic appearance of the skin. Genetic testing can confirm the diagnosis by identifying mutations in the SLURP1 gene. A family history of the disorder may also support the diagnosis.

Treatment

There is no cure for Meleda disease, but treatment focuses on managing symptoms and improving quality of life. Treatment options may include:

• Topical keratolytic agents to reduce skin thickening
• Emollients and moisturizers to keep the skin hydrated
• Systemic retinoids in severe cases
• Management of secondary infections due to skin fissures

Prognosis

The prognosis for individuals with Meleda disease varies. While the condition is chronic and can significantly impact quality of life, it is not typically life-threatening. With appropriate management, many individuals can lead relatively normal lives.

Related Pages

• Genetic disorder
• Palmoplantar keratoderma
• Autosomal recessive
• SLURP1