Mal de Meleda is a rare genetic disorder that affects the skin, specifically the palms of the hands and soles of the feet. It is named after the small Croatian island of Meleda, where the disease was first described in the early 20th century. This condition is characterized by thickening of the skin, excessive sweating, and the development of painful, malodorous keratoderma.
The history of Mal de Meleda dates back to 1928 when a Croatian dermatologist named Stjepan Stulli first identified and documented the disease. He observed several cases within the same family on the island of Meleda, which led to the naming of the disorder. Stulli's detailed clinical descriptions and photographs of affected individuals laid the foundation for further research and understanding of this condition.
Over the years, researchers have made significant progress in unraveling the genetic basis of Mal de Meleda. In the 1990s, genetic studies identified mutations in a gene called SLURP1 (Secreted Ly-6/uPAR-related Protein 1) as the cause of this disorder. SLURP1 is responsible for producing a protein that plays a crucial role in the normal development and maintenance of the skin.
Further investigations have revealed that Mal de Meleda follows an autosomal recessive pattern of inheritance, meaning that an affected individual inherits two copies of the mutated gene, one from each parent. If both parents are carriers of the gene, there is a 25% chance with each pregnancy that their child will be affected by the disorder.
Since the initial discovery, numerous cases of Mal de Meleda have been reported worldwide, although it remains a rare condition. The prevalence of the disorder varies among different populations, with higher rates observed in certain regions of Croatia, Italy, and other Mediterranean countries.
While the exact function of the SLURP1 protein and the mechanisms by which its deficiency leads to the characteristic symptoms of Mal de Meleda are not fully understood, researchers continue to investigate its role in skin biology. It is believed that the absence of functional SLURP1 protein disrupts the normal growth and differentiation of skin cells, leading to the thickening and hyperkeratosis seen in affected individuals.
Despite the ongoing research, there is currently no cure for Mal de Meleda. Treatment mainly focuses on managing the symptoms and preventing complications. This may involve regular use of emollients and keratolytic agents to soften and remove the thickened skin, as well as measures to control excessive sweating and prevent infections.
In conclusion, Mal de Meleda is a rare genetic disorder that was first described in the early 20th century on the Croatian island of Meleda. It is caused by mutations in the SLURP1 gene and follows an autosomal recessive pattern of inheritance. Although the exact mechanisms underlying the disease are not fully understood, ongoing research aims to shed light on the role of SLURP1 protein in skin biology. While there is no cure, current treatment options focus on symptom management and improving the quality of life for affected individuals.