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Harlequin fish, fetal harlequin or harlequin syndrome is a rare genetic skin disease that mainly affects newborns. As a result of this disease, the newborn is covered with thick skin plaques (scales) that break and split. Read what exactly is characterized by this disease, how common it is and how it is treated.
Harlequin fetus – what is it?
The fetus arlein (Harlequin Ichthyosis (HI)) is an extremely rare genetic skin disease. It is the heaviest type of ichthyosis. It is characterized by thickened, dry, rough and reinforced skin with deep cracks in between. Alternative names include keratosis diffusafetalis, congenital ichthyosis, fetal ichthyosis, harlequin fetus, congenital scales, harlequin ichthyosis or harlequin syndrome. It is an autosomal recessive disorderin which the majority of affected individuals are homozygous for a mutation in the ABCA 12 gene. The condition has a wide range of severity and symptoms.
See: Common skin diseases
Harlequin fetus – causes
A harlequin fetus (harlequin ichthyosis) is caused by changes (mutations) in the ABCA12 gene, which is responsible for the production of a protein necessary for the proper development of skin cells. This gene plays a key role in the transport of fats (lipids) to the most superficial layer of the skin (epidermis), creating an effective skin barrier. If this gene is mutated, the skin barrier is broken.
The disease is inherited in an autosomal recessive manner. Recessive genetic disorders occur when a person inherits an abnormal gene from each of their parents. If a person receives one normal and one abnormal gene for the disease, he or she will be a carrier of the disease but usually will not show symptoms. The risk that two carrier parents will pass on the wrong gene and therefore give birth to a sick child is 25% in any pregnancy. The risk of having a carrier, like parents, is 50% for any pregnancy. There is a 25% chance that a child will receive normal genes from both parents. The risk is the same for men and women.
Read also: Are you planning a pregnancy? Start with research – take care of your and your baby’s health
Harlequin fetus – symptoms
Harlequin babies, or babies with harlequin ichthyosis, are covered with thick, plate-like scales. The skin around the eyes and mouth is taut, forcing the eyelids and lips to curl inside out, revealing a red inner lining. A baby harlequin’s chest and abdomen can be severely constrained by skin tightness, making it difficult to breathe and eat.
Hands and feet may be small, swollen, and partially bent. The ears may appear misshapen or missing, but are actually connected to the head by a thick layer of skin. Babies born with Harlequin ichthyosis may also have a flat nose (lowered bridge of the nose), impaired hearing, frequent respiratory infections, and decreased joint mobility.
Below are the symptoms of Harlequin ichthyosis based on the location on the body:
- skin features – skin lesions are present at birth. The skin of the newborn is heavily thickened with large, shiny plates of hyperkeratotic scales. Deep, erythematous furrows separate the scales,
- face – severe ectropy affecting the eyelids of a newborn exposes the conjunctiva and cornea to drying out, infection and injury. The nose may be underdeveloped, nasal hypoplasia may occur. Ears may be underdeveloped, flattened, or absent. The snapping of the lips causes eclabium (the turning of the lip outward).
- limbs – limbs are covered with thick, hyperkeratotic skin. Hypoplasia of the fingers and extra fingers and toes may occur.
- thermal dysregulation – thickened skin prevents the proper functioning of the sweat glands and loss of heat. Excessive fluid loss leads to dehydration. An increase in body temperature can cause heat stroke.
Older children with harlequin ichthyosis may experience a delay in their physical development. But their mental development is usually in line with other children their age. An older child born with harlequin ichthyosis is likely to have red, scaly skin throughout his life. They may also have:
- sparse or thin hair as a result of scales on the scalp,
- unusual facial features caused by stretched skin,
- impaired hearing due to the accumulation of scales in the ears,
- problems with the movement of the fingers due to tight skin,
- thick nails,
- recurring skin infections,
- overheating due to cuticles that interfere with sweating.
Harlequin fetus – complications
Complications of harlequin ichthyosis are as follows:
- Harlequin ichthyosis skin abnormalities disrupt the normal skin barrier,
- poor immunity leads to infections that can be life-threatening,
- Thick, hyperkeratotic skin can cause contractures (shortening of the muscles) across the joints and narrowing of the limbs (including fingers and toes), leading to edema, necrosis and autoamputation
- the patient’s breathing is also restricted. The stiff skin makes it difficult for the chest wall to expand, leading to hypoventilation and respiratory failure.
- infants born with this condition may require nasal tube feeding in the early neonatal period as their ability to suck and swallow is limited.
Harlequin fetus – treatment
In the past, it was rare for a baby born with harlequin ichthyosis to live more than a few days. But things are changing, largely due to improved neonatal intensive care and the use of oral retinoids.
Today, those who survive infancy can live to be adolescence. However, importantly, the number of adolescents and adults living with harlequin ichthyosis continues to grow.
Harlequin fish husk is a chronic disease that will always require careful monitoring, skin protection, and topical treatment. But children diagnosed with Harlequin ichthyosis in recent years have much better prospects than those born in previous decades.
The therapeutic process of a newborn baby with harlequin ichthyosis actually begins right after birth. A multidisciplinary team of doctors takes care of a sick newborn, which increases its chances of survival.
Immediate care has been shown to improve outcomes and reduce complications such as respiratory failure, dehydration, electrolyte imbalance, impaired thermoregulation, systemic bacterial infections, and feeding difficulties. It is also believed that early treatment with oral retinoids improves skin quality. However, they are only used in severe cases because of their known toxicity and side effects.
The thick, lamellar skin of Harlequin ichthyosis will gradually split and peel off within a few weeks. During this time, you may need to be treated with antibiotics to prevent infection. Oral administration of acitretin may accelerate exfoliation of thick scales. Most harlequin babies will need individual nursing care for the first few weeks of life.
When the thick plaques detach, the skin remains dry and red, and may be covered with large, thin scales. Skin symptoms are treated with emollients to soften the skin. This can be especially effective after a bath while your skin is still wet. Many patients with severe ichthyosis are exfoliated by hand, wiping off the thick scales with special exfoliating gloves with a rough surface.
Skin barrier repair formulas that contain ceramides or cholesterol, moisturizers with petroleum jelly or lanolin, and mild keratolytics (products containing alpha hydroxy acids or urea) can work to keep skin moisturized and supple, and prevent burning and cracking that can lead to to infection. It may be necessary to remove damaged tissue (cleanse) from the fingers if they are pinched by the strips of skin to avoid loss of circulation.