Is Mal de Meleda hereditary?

Is Mal de Meleda hereditary?

Mal de Meleda is a rare genetic disorder that affects the skin. It is characterized by thickening of the skin on the palms of the hands and soles of the feet, as well as other areas of the body. The condition is named after the island of Meleda in Croatia, where it was first described.

Genetic studies have shown that Mal de Meleda is inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene in order for their child to be affected. If both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit the disorder.

The specific gene mutation responsible for Mal de Meleda has been identified as the SLURP1 gene. This gene provides instructions for producing a protein that is involved in the normal development and maintenance of the skin. Mutations in this gene lead to the characteristic thickening of the skin seen in individuals with Mal de Meleda.

It is important for individuals with a family history of Mal de Meleda to undergo genetic counseling and testing if they are planning to have children. This can help determine their carrier status and the likelihood of passing on the disorder to their offspring.

In conclusion, Mal de Meleda is a hereditary condition that is inherited in an autosomal recessive manner. Genetic counseling and testing can provide valuable information for individuals and families affected by this rare disorder.