What causes albinism in infants?

Written by Yan Xin Liang
Pediatrics
Updated on September 23, 2024
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Albinism in infants is caused by a deficiency or dysfunction of tyrosinase, leading to a lack of melanin or a synthesis disorder in the skin and its appendages. This inherited form of albinism results in the retina lacking pigment, with the iris and pupils appearing pale pink, and sensitivity to light. The skin, mucous membranes, hair, and other body hair are white or yellowish-white. Albinism is a familial hereditary disease, inherited as an autosomal recessive trait, often occurring in populations with a high rate of consanguineous marriages. In the genetic pedigree of albinism, both parents carry the albinism gene; carriers themselves do not show symptoms but can pass the causative gene to their children, who then manifest the disease.

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Written by Zhang Jian Bo
Dermatology
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Vitiligo is what kind of disease?

Albinism is a congenital hereditary skin disease, which primarily manifests as the pigment loss or localized, or complete depigmentation of the skin, hair, and eyes. Clinically, it can be categorized into localized albinism and generalized albinism. The onset of the disease may be significantly related to defects in certain genes, hence it has a strong genetic component. Its manifestation includes whitening of the skin and hair, as well as loss of pigment in the eyes. Due to the lack of pigment, symptoms may include photophobia, tearing, and a decrease in vision. Currently, there are no particularly effective treatments for albinism. The main approach includes avoiding light exposure and applying sunblocks and ointments to prevent the occurrence of skin tumors.

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Written by Du Rui Xia
Obstetrics
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Can albinism be detected during pregnancy?

Prenatal genetic testing during pregnancy can be used to diagnose albinism. The incidence of albinism is very low, making it a rare disease clinically, yet it is not included in routine prenatal screening programs. If there are family members with albinism, especially couples who have already had children with the condition, prenatal testing and genetic counseling are necessary. Prenatal genetic testing can identify the specific gene mutation sites within the family. Furthermore, it allows for the use of third-generation IVF techniques to select embryos without the paternal or maternal gene mutations, which can then be implanted in the mother's body to prevent the birth of another child with albinism.

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Written by Huang Ling Juan
Dermatology
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Does albinism have symptoms other than being white?

In addition to light skin, albinism also presents other symptoms. Individuals with albinism usually have white or yellow-white hair that is fine and soft. Their pupils appear red due to the lack of pigment in the choroid, and some might have congenital small pupils. The sclera may be transparent or appear pale red. People with albinism typically experience photophobia, tearing, frequent blinking, nystagmus (eye tremors), and astigmatism. Although most patients are healthy in other body parts, some with albinism may suffer from poor development, short stature, and intellectual disabilities. When albinism affects the eyes, it is accompanied by skin depigmentation, photophobia, and tearing. Excessive exposure to ultraviolet rays can lead to conditions like solar dermatitis, actinic cheilitis (inflammation of the lips), increased wrinkling of the skin, and dilation of capillaries.

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Written by Huang Ling Juan
Dermatology
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If vitiligo is not treated, what are the consequences?

If albinism is not treated, it can have serious consequences. Primarily, albinism affects the pigmentation of hair and the retina at the back of the eye. Lack of pigment in the retina can lead to photophobia, and some individuals may experience nystagmus, with severe cases showing a significant decrease in vision. The vision of some individuals with albinism may range between 0.05 to 0.1, which has a significant impact on eyesight. If left untreated, albinism also greatly affects the skin. Individuals with albinism are sensitive to light and are prone to skin cancer under strong ultraviolet radiation. Moreover, some rare types of albinism can cause a decrease in platelet function, leading to a tendency to bleed at a certain age, as well as pulmonary fibrosis. Albinism is primarily a genetic condition caused by mutations and is linked to heredity. The main issue in albinism is a disruption in melanin formation, leading to reduced pigmentation.

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Does albinism have anything to do with blood type?

Albinism is not related to blood type; it is related to genetics. Albinism is a skin and appendage disorder caused by a deficiency or reduced function of tyrosinase. It is somewhat related to hereditary factors, and also to the lack or synthesis obstruction of melanin. If both parents pass the pathogenic gene they carry to their children, then the children may develop this type of albinism. Ocular albinism is usually an X-linked recessive genetic disorder, mainly transmitted from mothers carrying the albinism gene to their sons, leading to the onset of the disease. Albinism is not directly related to blood type. If albinism occurs, it is advisable to consult and treat at a hospital, and to take preventive measures against the disease before pregnancy.