Harlequin Ichthyosis

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What is harlequin ichthyosis?

Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large diamond-shaped plates separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and restrict movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure.

The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids from the body (dehydration) and develop life-threatening infections during the newborn period.

How common is harlequin ichthyosis?

Harlequin ichthyosis is very rare; its exact incidence is unknown.

What genes are related to harlequin ichthyosis?

Mutations in the ABCA12 gene cause harlequin ichthyosis.

The ABCA12 gene makes a protein that is essential for the normal development of skin cells. This protein appears to play a major role in the transport of lipids (fats) in the outermost layer of skin (the epidermis). Some mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein. Other mutations lead to the production of an abnormally small version of the protein that cannot transport lipids properly. The loss of functional ABCA12 protein disrupts the normal development of the epidermis, preventing the skin from forming an effective barrier and resulting in the hard, thick scales characteristic of harlequin ichthyosis.

How do people inherit harlequin ichthyosis?

This condition is likely inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

Source: National Institutes of Health

New findings from Technical University of Munich describe advances in hereditary disease

"Mutations in some of these genes have been described to cause severe hereditary diseases related with lipid transport, such as fatal surfactant deficiency or harlequin ichthyosis. In addition, most of them are hypothesized to participate in the subcellular sequestration of drugs, thereby being responsible for the resistance of several carcinoma cell lines against drug treatment," wrote C. Albrecht and colleagues, Technical University of Munich.

The researchers concluded: "The objective of this review is to summarize the literature for this subfamily of ABC transporter proteins, excluding ABCA1 and ABCA4, which will be discussed in other chapters of this issue."

Albrecht and colleagues published the results of their research in Pflügers Archiv European Journal of Physiology (The ABCA subfamily--gene and protein structures, functions and associated hereditary diseases. Pflügers Archiv European Journal of Physiology, 2007;453(5):581-9).

For additional information, contact C. Albrecht, Physiology Weihenstephan, Technical University Munich, Freising, Germany.

The publisher of the Pflügers Archiv European Journal of Physiology can be contacted at: Springer, 233 Spring Street, New York, NY 10013, USA.

Keywords: Germany, Freising, Hereditary Disease, Physiology, Protein Structure, Proteins, Proteomics.

This article was prepared by Proteomics Weekly editors from staff and other reports. Copyright 2007, Proteomics Weekly via NewsRx.com.