Меледа ауруы: Сирек тері ауруы және оның емделуі

Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and transgradiens of Siemens, (also known as "acral keratoderma", and "palmoplantar keratoderma of the Norrbotten type") is an extremely rare autosomal recessive congenital skin disorder in which dry, thick patches of skin develop on the soles of the hands and feet, a condition known as palmoplantar hyperkeratosis. Meleda Disease is a skin condition which usually can be identified not long after birth. This is a genetic condition but it is very rare. The hands and feet usually are the first to show signs of the disease but the disease can advance to other parts of the body. Signs of the disease include thickening of the skin, on hands and soles of feet, which can turn red in color. There currently is no cure and treatment is limited, but Acitretin can be used in severe cases.

Skin on the palms of hands and soles of feet have dry, thick patches which progress slowly. The skin that is affected may look red in color and then start becoming abnormally thick and scaly. Other symptoms can include excessive sweating due to the thick skin affecting sweat glands on the skin; this excessive sweating can cause a person to have bad odor.

MDM is most common on the Dalmatian island of Mljet (or Meleda), thought to be because of a founder effect. It is of autosomal recessive inheritance. It may be caused by a mutation on the SLURP1 gene, located on chromosome 8. The SLURP1 gene makes a protein called SLURP 1, and this protein is located in cells of the skin. The protein SLURP 1 helps with cell death regulation and help mediate inflammation that is occurring, A gene mutation would be caused by the chromosome 8qter, but was taken off of the market in 1998 in America due to toxic effects and the increased risk of birth defects. Aromatic Retinoid Etretinate is still sold in Japan under the name Tigason. In America, Etretinate was replaced by Acitretin, and is only used in severe cases due to the severe side effects. If taking Acitretin it is advised to not donate blood or get pregnant for at least 3 years after taking the drug.

With treatment the prognosis can be good for people with this disease. Quality of life can possibly can be decreased, therefore getting treatment is recommended. Too much dry skin can be painful for some and cause discomfort. There is limited data on the life expectancy of an affected person, but this disease alone does not reduce a person's lifespan.

Most cases of Meleda Disease have been reported in and around the former Yugoslavia. It is estimated that there is one case per 100,000 people, who become affected with the disease. Symptoms usually show up after birth and there are no differences in gender or ethnicity as to who can become affected. The disease is believed to have started on the Croatian island of Mljet, after people were quarantined on the island for having plague and other diseases in 1826. On the island, inbreeding is believed to have occurred and Meleda disease became apparent.

Current research is directed to find more treatments, and to see if there is any way to prevent this disease.