The harlequin ichthyosis is a gene mutation that causes a severe, rare genetic disorder of the skin. A mutation causes it to occur in a gene responsible for making a protein that helps the skin cells develop. A person with Harlequin ichthyosis has thick, dry, scaly skin that cracks and splits apart, resulting in infections, dehydration, breathing difficulties, and eating difficulties. These cracks can result in infections, dehydration, and breathing difficulties. The shape of the eyes, nose, mouth, and ears can also be affected by harlequin ichthyosis.
Harlequin ichthyosis is present from birth and can be diagnosed by the appearance of the skin. The symptoms of harlequin ichthyosis include:
Thick, hard, and red skin plates that cover most of the body
Deep cracks or fissures between the skin plates
Distorted facial features due to the tightness of the skin
Everted eyelids (ectropion) and lips (eclabium) that expose the inner tissues
Poorly developed or absent ears and nose
Difficulty moving the arms and legs due to the stiffness of the skin
Difficulty breathing due to the restricted chest movement
Difficulty feeding due to the mouth abnormalities
Increased risk of infection, dehydration, and hypothermia
Some less common symptoms of harlequin ichthyosis are:
Cataracts (clouding of the lens of the eye)
Shortness of breath
Self-injurious behavior (deliberately hurting oneself)
Sudden cardiac failure
As a result of a mutation in the ABCA12 gene, Harlequin ichthyosis is inherited in an autosomal recessive pattern. In order for the child to develop harlequin ichthyosis, both parents must carry a copy of this mutated gene and pass it on to their child. The parents are usually unaffected carriers without symptoms.
This gene encodes the production of a protein that transports fats and enzymes in the epidermis of the skin. As a result of mutations in the ABCA12 gene, the protein is either lacking or defective, resulting in abnormal skin development and function. These fats and enzymes are essential for forming a protective barrier that prevents water loss and infection.
Genetic testing and the appearance of the skin are used to diagnose harlequin ichthyosis before or after birth. The signs of harlequin ichthyosis, such as thickened skin or abnormal facial features, can be detected during prenatal tests such as amniocentesis or ultrasound. In order to confirm harlequin ichthyosis after birth, a sample of the child's skin can be examined under a microscope or a blood test to look for ABCA12 gene mutations.
In the first few weeks of life, harlequin ichthyosis requires intensive care since there is no cure for it. Treatment can manage symptoms and improve quality of life. Treatment for harlequin ichthyosis requires intensive care, particularly during the first few weeks. Treatment aims to prevent infection, dehydration, and hypothermia, improve breathing and feeding, and soften and moisturize the skin.
Treatment options for harlequin ichthyosis include:
Antibiotics to prevent or treat infections
Fluids and electrolytes to prevent dehydration
Humidified incubators or warm blankets to maintain body temperature
Oxygen therapy or mechanical ventilation to assist breathing
Nasogastric tube feeding or special bottles to provide nutrition
Moisturizing creams or ointments to hydrate and protect the skin
Retinoids (vitamin A derivatives) to reduce skin thickness and scaling
Surgery to correct eyelid or lip abnormalities
It is impossible to prevent harlequin ichthyosis, but genetic counseling can help parents who have a family history of harlequin ichthyosis or carry a mutation of the ABCA12 gene. Information about harlequin ichthyosis, as well as options for prenatal testing and assisted reproduction techniques, can be provided by genetic counselors.
There is a genetic disorder called Harlequin ichthyosis that affects the skin and causes a mutation in the ABCA12 gene, which affects the way skin cells develop and function. A person with Harlequin ichthyosis has thick, dry, and scaly skin plates that crack and split apart, resulting in infection, dehydration, breathing difficulties, feeding difficulties, and facial deformities. Genetic testing and a thorough examination of the skin appearance can be used to diagnose harlequin ichthyosis before or after birth. The symptoms of harlequin ichthyosis can be managed with intensive care and supportive measures. Parents who are at risk of having a child with harlequin ichthyosis can benefit from genetic counseling.
