What is Harlequin ichthyosis?

Harlequin ichthyosis is a painful inherited skin condition characterized by overproduction of keratin and subsequent culpit of the skin. Cases have been documented since the 17th century, although until the end of the 20th century people with Harlequin ichthyosis rarely survived after the first week of life, because the condition is associated with a number of complications. This skin disease is very rare and is most likely to occur in children who share a genetic line. It is estimated that about 100 people live with Harlequin ichthyosis at the moment. All these diseases are characterized by the development of reinforced, scaly skin. Harlequin ichthyosis is the most serious of these conditions and is named after distinctive diamond shapes of hardened skin that resemble decorations used in Harlequin costumes. Individuals with Harlequin ichthyosis grow as much skza night as other people in 14 days, develop layers of tempered standards and narrowed features caused by tightening and cure of the skin.

One of the closest complications of harlequin ichthyosis is increased susceptibility to bacterial infection. People with this condition have the skin that bursts instead of folding, and provides numerous places for bacteria to enter the body. Dehydration is another common problem, as well as hyperthermia, because thickened skin does not allow the body to control its temperature very well. People with Harlequin ichthyosis are also very sensitive to temperature changes due to their lack of thermal regulation. Many of them also experience breathing problems because their hardened skin limits the movement of the rib cage.

This congenital condition is caused by an error in the ABCA12 gene as genetic testing Patills. Testing also revealed the fact that people with a condition share enough genetic material to indicate that they have common ancestors, and that several patients also share a genetic line, suggesting that the condition may be the result of a single geneticKé mutation. Parents who have a child with Harlequin ichthyosis are also very likely to see this situation with future children.

survival with harlequin ichthyosis depends on managing skin growth and body protection. Patients usually spend several hours a day soaking in the bath to soften the skin, followed by intense scrubbing to remove the outer layers of the skin. It is also important to use skin creams and humidifiers to maintain hydrated skin. One patient with Harlequin ichthyosis, Ryan Gonzalez, is a successful triathlete, which proves that it is possible to live and remain active with this condition.