What is albinism

What is albinism

Albinism is actually a common skin disease and it is also the skin disease that many women fear the most. Although the scientific name of albinism is albinism, it is a manifestation of poor vision and dark skin, especially after sun exposure. It is more likely to have spots. It should be said that albinism is a skin-related disease with many categories.

So what is albinism? If you have albinism, what kind of problems will your body have? For example, what are the clinical manifestations of this disease? Will it be accompanied by other diseases? How can you tell if you have albinism?

Albinism can be divided into two major groups. One is the more common eye and skin albinism, in which the body cannot produce melanin. Another type of albinism is accompanied by an abnormal immune system, including Shediak-Hispanic syndrome, Henri-Pierre syndrome, Grisley syndrome, and Cross syndrome. This type is related to defects in melanin and other cellular proteins.

Albinism is divided into three categories based on clinical phenotypic characteristics: (1) ocular albinism (OA), in which patients only have reduced or absent eye pigmentation, and have varying degrees of low vision, photophobia and other symptoms. The incidence rate in foreign populations is about 1/60,000; (2) oculocutaneous albinism (OCA), in addition to lack of eye pigmentation, low vision, photophobia and other symptoms, patients also have obvious lack of pigmentation in their skin and hair. The incidence rate reported abroad is 1/20,000 to 1/10,000; oculocutaneous albinism can be divided into four types (OCA1 to OCA4) based on the different pathogenic genes. In my country, OCA1 and OCA2 are more common. (3) Albinism-related syndromes: In addition to a certain degree of oculocutaneous albinism, patients also have other specific abnormalities, such as Chediak-Higashi syndrome with impaired immune function and Hermansky-Pudlak syndrome with bleeding diathesis. These diseases are relatively rare. [1]

Clinical manifestations

The skin of people with albinism lacks melanin and is milky white or pink, tender and dry. The hair becomes pale or yellowish. Due to the lack of melanin protection, the patient's skin is highly sensitive to light and is prone to sun spots and various photosensitive dermatitis after sun exposure, but the skin does not darken after sun exposure. Photocheilitis and telangiectasia often occur, and some people may develop solar keratosis, and basal cell carcinoma or squamous cell carcinoma may occur. Due to the lack of pigment in the eyes, the irises are pink or light blue, and symptoms such as photophobia, tearing, nystagmus and astigmatism are common. Most people with albinism have poor physical and intellectual development.

The above is a brief introduction about albinism. In fact, the most important thing for people with albinism is to receive timely treatment. Of course, albinism also indicates that there may be a problem of decreased immunity, so while receiving treatment, you should also improve your immunity in a targeted manner.

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