Meleda disease or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and transgradiens of siemens, (also known as "Acral keratoderma," "Mutilating palmoplantar keratoderma of the Gamborg-Nielsen type," "Palmoplantar ectodermal dysplasia type VIII", and "Palmoplantar keratoderma of the Norrbotten type") is an extremely rare autosomal recessive

Recessive

In genetics, the term "recessive gene" refers to an allele that causes a phenotype that is only seen in a homozygous genotype and never in a heterozygous genotype. Every person has two copies of every gene on autosomal chromosomes, one from mother and one from father...

 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

Hyperkeratosis

Hyperkeratosis is thickening of the stratum corneum, often associated with a qualitative abnormality of the keratin, and also usually accompanied by an increase also in the granular layer...

.

Genetic prevalence

MDM is most common on the Dalmatia

Dalmatia

Dalmatia is a historical region on the eastern coast of the Adriatic Sea. It stretches from the island of Rab in the northwest to the Bay of Kotor in the southeast. The hinterland, the Dalmatian Zagora, ranges from fifty kilometers in width in the north to just a few kilometers in the south....

n island

Island

An island or isle is any piece of sub-continental land that is surrounded by water. Very small islands such as emergent land features on atolls can be called islets, cays or keys. An island in a river or lake may be called an eyot , or holm...

 of Mljet

Mljet

Mljet is the most southerly and easterly of the larger Adriatic islands of the Dalmatia region of Croatia. The National Park includes the western part of the island, Veliko jezero, Malo jezero, Soline Bay and a sea belt 500 m wide from the most prominent cape of Mljet covering an area of...

 (or Meleda), thought to be because of a founder effect

Founder effect

In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1942, using existing theoretical work by those such as Sewall...

. It is of autosomal recessive inheritance. It may be caused by a mutation

Mutation

In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...

 on the SLURP1

SLURP1

Secreted Ly-6/uPAR-related protein 1 is a protein that in humans is encoded by the SLURP1 gene.-Further reading:...

gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

, located on chromosome 8.