Infant Albinism: Types, Symptoms & Pediatric Care Guide

Infant albinism is an unusual group of symptoms that are hereditary; they are passed down through defective genes. The condition occurs when there is a lack of an enzyme called tyrosinase present in the genes. This enzyme is responsible for transforming tyrosine into melanin, which plays a part in giving skin, hair and eyes their color. As a result, when this enzyme is lacking, the tyrosine does not undergo the transformation into melanin, causing abnormalities in hair, skin and eye color. This means that if the child is Caucasian, he or she will not have blue, green or brown eyes. In Caucasians, the eyes will not appear blue, while in Thai individuals, the eyes will not be dark brown or black as expected, but will instead appear grayish. As for hair, body hair, and skin, they will be white or yellowish — noticeably different from other members of the family.

The types of albinism can be broken down into various subcategories. However, in the main, children with complete albinism are affected by the condition throughout their body, from the hair on their head, to their eye and skin color. 

1. Complete Albinism (Whole Body): Children in this group are categorized by their complete lack of the tyrosinase enzyme. These infants are born with albinism, and it will remain with them for the whole of their lives. Another type occurs in those with a small amount of tyrosinase enzymes. When this group are first born, they may be very pale. For those with some tyrosinase enzyme, who are also born with white coloring, but as they grow older, the body becomes able to produce slightly more pigment — causing the skin to darken slightly to a light tan, and the hair may shift to a bronze tone. Eye-related symptoms in this group include gray or brown iris coloring, light sensitivity (photophobia), involuntary eye movement (nystagmus), and reduced visual acuity (decreased clarity of vision). This type of albinism occurs equally in both girls and boys.
2. Ocular Albinism (Eyes Only): Ocular Albinism only affects the eyes of those who experience this condition. Their retinas do not have any pigmentation, which means that they are particularly sensitive to sunlight. If this group of people are exposed to glaring sunlight, their eyes can develop a squint. In extreme cases, if the condition is not treated appropriately, or if the correct preventive measures are not in place, they could lose their sight altogether. Ocular Albinism is the result of a gene mutation on the X chromosome, and occurs exclusively in males.
3. Albinism with Easy Bleeding (Hermansky-Pudlak Syndrome): Children in this group experience easy and prolonged bleeding, caused by a genetic abnormality affecting the production of melanosomes (the cellular structures that store and transport melanin) and platelets (the blood cells responsible for clotting). It is inherited as a recessive trait and is uncommon, though consanguineous marriages (marriage between close relatives) significantly increase the likelihood of the condition occurring. At birth, the hair may be white and gradually shift to yellow, and the skin similarly may develop a yellowish tone over time. The eyes may initially appear colorless, but after six months, a small amount of pigment may develop in the iris. In addition to easy bleeding, children in this group may also experience pulmonary complications, such as pulmonary fibrosis (scarring of the lung tissue) causing breathing difficulties, as well as gastrointestinal issues such as indigestion and increased susceptibility to infections.

Parents must take extra precautions to prevent their child from falling or engaging in activities that risk cuts and bleeding. It is recommended that the child receive adequate vitamin C, and parents should be cautious of certain medications that may further impair platelet function, as this can make it significantly harder for bleeding to stop.

At this point, you may be wondering, “If my family has no history of albinism, is there a chance my child could have albinism?” 

According to medical studies, there may be a chance that your child could be born with albinism because of the aforementioned details about albinism being a condition passed on through defective genes. This means that neither the mother nor the father need to have albinism for their child to get it, as the mutation may have skipped many generations. For example, a great grandfather may have had the condition, so his child would have received half of that genetic defect. If that half was not combined with another half, the condition would not have presented itself. However, if two people with the defective gene married and had children, their child would be at risk of being born with albinism. 

Currently, genetic testing can provide an accurate diagnosis of this condition. It is recommended that patients consult a medical geneticist (a doctor who specializes in inherited conditions) to plan appropriate treatment and discuss strategies for prevention.

Caring for a child with albinism needs to encompass both their physical and mental well-being. 

Skin Protection
Regarding skin care, children with complete albinism who have no melanin at all must be extremely cautious about sun exposure. Melanin normally functions as the skin's natural protection against UV radiation from sunlight. Therefore, when taking the child outdoors, they should be dressed in long-sleeved shirts and long pants that fully cover the skin, and should wear a hat. Direct sunlight should be avoided between 10:00 AM and 2:00 PM. Sunscreen with an SPF of at least 30 should be applied and reapplied frequently. Prolonged exposure to strong sunlight can cause serious skin damage and significantly increases the risk of skin cancer, which is a known cause of death in children with albinism. If any skin abnormalities are observed, parents should consult a dermatologist (skin specialist) for skin cancer screening.

Eye Care
In addition to skin care, eye care is equally important. Children with albinism commonly experience vision problems, including light sensitivity, blurred vision, and symptoms similar to nearsightedness. In more severe cases, the condition may progress to significant vision loss. Sunglasses should be worn at all times when outdoors.
It is recommended to visit an ophthalmologist (eye specialist) starting from 4–6 months of age, with follow-up appointments every 3–4 months during the first 2 years, and thereafter every 6 months to 1 year, to monitor and screen for any eye abnormalities.

Mental Health and Emotional Well-Being
As for the mental health of a child with albinism, parents should try their best to ensure that their child does not feel like an outcast. This requires cooperation from teachers, who need to keep a close eye on the child so that they are not a victim of bullying, as this could give them an inferiority complex.

After reading about the facts and courses of treatment for children with albinism, parents who are currently encountering this condition may be feeling somewhat anxious and uncertain. However, it should be said that albinism is not always such an extreme condition. Its effects depend on the form present in the child. We implore parents not to feel too anxious, as if you focus on your child’s care, as well as offering them the appropriate protection, they will be able to lead a normal life, just like any other child.