martes, 2 de diciembre de 2014

Mal de Meleda - Genetics Home Reference

Mal de Meleda - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions

Mal de Meleda

Reviewed November 2014

What is mal de Meleda?

Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the skin of the palms of the hands and soles of the feet becomes thick, hard, and callused. In mal de Meleda, the thickened skin is also found on the back of the hands and feet and on the wrists and ankles. In addition, affected individuals may have rough, thick pads on the joints of the fingers and toes and on the elbows and knees. Some people with mal de Meleda have recurrent fungal infections in the thickened skin, which can lead to a strong odor. Other features of this disorder can include short fingers and toes (brachydactyly), nail abnormalities, red skin around the mouth, and excessive sweating (hyperhidrosis).

How common is mal de Meleda?

Mal de Meleda is a rare disorder; its prevalence is unknown. The disorder was first identified on the Croatian island of Mjlet (called Meleda in Italian) and has since been found in populations worldwide.

What genes are related to mal de Meleda?

Mal de Meleda is caused by mutations in the SLURP1 gene. This gene provides instructions for making a protein that interacts with other proteins, called receptors, and is likely involved in signaling within cells. Studies show that the SLURP-1 protein can attach (bind) to nicotinic acetylcholine receptors (nAChRs) in the skin. Through interaction with these receptors, the SLURP-1 protein is thought to be involved in controlling the growth and division (proliferation), maturation (differentiation), and survival of skin cells.
Mutations in the SLURP1 gene lead to little or no SLURP-1 protein in the body. It is unclear how a lack of this protein leads to the skin problems that occur in mal de Meleda. Researchers speculate that without SLURP-1, the activity of genes controlled by nAChR signaling is altered, leading to overgrowth of skin cells or survival of cells that normally would have died. The excess of cells can result in skin thickening. It is unclear why skin on the hands and feet is particularly affected.
Read more about the SLURP1 gene.

How do people inherit mal de Meleda?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of mal de Meleda?

These resources address the diagnosis or management of mal de Meleda and may include treatment providers.
You might also find information on the diagnosis or management of mal de Meleda in Educational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about mal de Meleda?

You may find the following resources about mal de Meleda helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for mal de Meleda?

  • acroerythrokeratoderma
  • keratosis palmoplantaris transgrediens of Siemens
  • Meleda disease
  • transgrediens palmoplantar keratoderma of Siemens
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about mal de Meleda?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding mal de Meleda?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (5 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

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