Harlequin: A rare genetic disorder that causes severe “scales” to babies

Illness name: Also known as Harlequin Fish Disease, Fetal Fish Disease and Harlequin Baby Syndrome

Affected Population: This genetic condition affects an estimated 1 person in 300,000 births worldwide. In the United States, according to the National Rare Disability Agency, it is estimated that it occurs at about one person at the time of 500,000 births, or around seven people a year. This condition appears to affect equal numbers for men and women, and does not occur very frequently in certain racial or ethnic groups.

Cause: Harlequin fish disease is caused by various mutations in the gene called ABCA12. It carries instructions for proteins that ship molecules to the cell membrane. These proteins are key to transporting fat and enzymes in the outermost layer of the skin known as the epidermis.

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Most people with Harlequin vesicular disease have genetic mutations that cause cells to produce ABCA12 protein, and are unable to transport fat properly. In some cases, people are unable to make any protein, resulting in the most severe cases of the disease.

Evidence suggests that the condition is inherited in an autosomal recessive pattern. This means that in order for a baby to develop a disorder, he must inherit two copies of the broken gene (one from each parent). People with only one copy of a mutant gene are “carriers”, but no symptoms are seen. People with a history of family members with disabilities can consider seeking genetic counseling and checking whether they are carriers.

Symptoms: Transport of fat molecules in the epidermis is important to maintain hydration in the skin, and the skin must develop properly in the uterus and after birth. If your baby has ABCA12 protein that is too short or completely absent, these infants are born with thick skin-like skin and stretch the skin very tightly.

Tight skin easily cracks and forms clefts. Tension pulls the affected baby’s eyelids and lips, turning them over, restricting chest movement, and preventing breathing and eating. It is also common for nails to grow poorly.

Harlequin babies with vestibular disease are often born prematurely and may exhibit additional symptoms and characteristics, such as a flat nose, abnormal hearing, ears fused to the head, swelling of the hands and feet, and reduced joint mobility.

This condition impairs the protective barrier of the skin, making infants vulnerable to dehydration and unable to regulate temperature or become infected. For infants who survived the newborn age, the “armor-like” plates eventually fall off, with the remaining skin being very red, dry and scaly.

Harlequin fish-affected infants often do not survive the newborn age, but intensive medical care can survive into later childhood, childhood, and even adulthood. A report reviewing 45 cases of the disease revealed that approximately 55% of patients survived neonatal period, with survivors ranging from 10 months to 25 years of age at the time of the survey. Common causes of death during the immediate postnatal period included respiratory failure and/or sepsis. This was a dangerous whole body immune response.

Treatment: As there is no treatment for Harlequin’s Uoshima, Care aims to manage symptoms of the disease.

According to the Cleveland Clinic, babies in this condition are being cared for intensive care units (NICUs) shortly after birth. So they are placed in high humidity incubators to help regulate temperature and skin hydration. It is also frequently soaked to soften and loosen skin plaque and can be removed using exfoliating techniques. Moisturizers and skin barrier repair techniques also help with excessive dryness and stiffness of the skin. Various painkillers can help make your newborn more comfortable.

In severe cases, a drug called retinoids may be used and is usually given orally. These drugs help break down the thick, skin-like scales that cover the skin. However, these drugs are preserved for severe cases as they can cause toxic side effects if used for a long period of time.

Antibiotics may be required to prevent or counter skin infections. The eyes should also be lubricated regularly as infants in their condition cannot close their eyelids properly.

Upon discharge from the NICU, Harlequin’s child with fossa disease will need ongoing skin care and lifelong medical care to manage additional symptoms that may appear due to the condition. This care usually requires a diverse team of healthcare professionals, including ophthalmologists, plastic surgeons, dietitians, physiotherapists, occupational therapists, speech therapists, and speech therapists.