Albinism

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Albinism
Body Parts: Whole Body
Medical Subjects: Skin
Overview

What Is Albinism

What is albinism?

Albinism is a genetic disease caused by defective or greatly reduced melanin synthesis, manifested as pigment deficiency in the skin, hair, and eyes, which can be found abnormal at birth. At present, there is no effective treatment for albinism, and the most important thing is to prevent albinism patients from being born.

Is albinism common?

An average of 5 to 10 cases per 100,000 people. In remote areas with a small population base and a small floating population, the incidence of albinism will be high; In cities with a large population base and a large floating population, the incidence of albinism is low. For example, the survey of 110,000 people in Shanghai only found one albino patient.

How many kinds of albinism?

Albinism can be divided into two major types: non-syndrome albinism and syndrome albinism. Among them, non-syndrome albinism includes eye albinism (partial albinism) and eye-skin albinism (generalized albinism).

Cause

What Is The Cause Of Albinism

What causes albinism?

Albinism is a genetic disease and patients often have a family history of albinism.

In layman's terms, the patients' parents each carry a disease-causing gene (parents can have no manifestation of albinism). In the process of pregnant with patients, the disease-causing genes of both parents are inherited to the patients, leading to the patient's disease.

In addition, gene mutation may also lead to albinism, but rarely.

Why is albino patient white?

Due to the inheritance of the causative gene, there is a defect in tyrosinase in the melanocytes of patients with albinism, resulting in a decrease in melanin synthesis and hence albinism.

Is albinism contagious?

Not contagious.

Symptom

What Are The Symptoms Of Albinism

What are the manifestations of albinism?

Manifestations of albinism are mainly caused by pigment deficiency:

  • Skin: The skin is light red. Due to the lack of skin pigment, albino patients are very sensitive to ultraviolet light and are more likely to be burned by the sun than normal people.
  • Hair: The hair can be white, pale yellow, gold, light grey, light brown, and some adult patients also see black hair at the end of the limbs.
  • Eyes: The iris is red, cyan, light brown, etc.

In addition to pigment deficiency, patients with albinism may present with structural and functional abnormalities of the eye, such as thin sclera, pupil deformation, lens deficiency, small eyeball, horizontal nystagmus, myopia, hyperopia, low vision, photophobia, etc.

There are three types of albinism, and different types have different characteristics.

What are the characteristics of albinism in eyes and skin (generalized albinism)?

Generalized albinism is characterized by marked pigment deficiency in the skin, hair and eyes of the patient. It may be accompanied by abnormalities in the structure and function of the eye, such as low vision, photophobia, etc.

What are the characteristics of ocular albinism (partial albinism) in albinism?

Some albinism is characterized by a lack of pigment only in the eyes and a normal pigment in the skin and hair. It may be accompanied by abnormalities in the structure and function of the eye, such as low vision, photophobia, etc.

What are the characteristics of albinism-related syndrome in albinism?

Albinism-related syndrome is characterized by being rare and accompanied by abnormalities other than those of the skin, hair and eyes, such as:

  • Chediak-Higashi syndrome (CHS): It is accompanied by immunologic abnormalities and is often complicated by infection.

  • Hermansky-Pudlak syndrome (HPS): with a tendency to bleed.

Detect

How To Check For Albinism

How is albinism diagnosed?

Albinism can be diagnosed according to the characteristic manifestations of albinism acquired at birth and the family history of the patient.

How does albinism differentiate from vitiligo?

Vitiligo is not a congenital disease, is born after the onset of disease, the onset of any age, skin lesions for white spots, the edge can be deepened with pigment, white spots can be increased, decreased or disappeared. Severe vitiligo, leukoplakia even sheets, normal skin, white lesions in the skin between the distribution like an island.

Prevention

How To Prevent Albinism

How is albinism child born prevented?

Prenatal diagnosis is required to prevent the birth of a child with albinism if one of the spouses is albino, or if the couple is normal but has given birth to a child with albinism, or if both spouses have relatives with albinism.

How to do prenatal diagnosis of albinism?

Prenatal diagnosis of albinism consists of two parts:

(1)Genetic testing is performed on parents and born children with albinism mainly to identify the albinism genes they carry.

(2)Genetic testing of fetuses can be performed by assaying umbilical cord blood or amniotic fluid for exfoliated cells, or by performing fetal microscopy or skin biopsy of the fetus. It is mainly used to determine whether the fetus has the possibility of albinism.

Treatment

How To Treat Albinism

Which department should I visit for albinism?

It is recommended to visit a dermatology department or general internal medicine department, and you can visit the Genetics Department if you are qualified.

How is albinism treated?

There is currently no effective treatment for albinism, which can only be prevented by eugenics (prevention of consanguinity). Attention should be paid to sunscreen when skin pigment is missing, and colored glasses should be worn. Patients with visual problems can be improved through matching lenses; Surgical treatment is indicated for other ocular impairments.

How to deal with after albino patient sunburn?

Treatment measures for albino patients after being burned by the sun are the same as those for ordinary people: the mild ones can be treated with calamine lotion and glucocorticoid cream for external application, and the severe ones can be treated with non-steroidal anti-inflammatory drugs and glucocorticoid by oral administration. Seek medical advice timely if necessary.。

Life

What Should Albino Patient Notice In Life

What should be noticed in the life of albino patients?

Patients with albinism should avoid exposure to intense sunlight. When must be in the strong sun activity, should take strict sunscreen measures:

  • Sunglasses to protect your eyes;
  • Wear long clothes and trousers, and keep out the sunshine with parasols and hats;
  • Apply sunscreen and use a high SPF sunscreen.

Can patients with generalized albinism in albinism use cosmetics?

Yes, such as dye hair, applying a colored foundation to expose skin, and that like. However, do not use cosmetics with "whitening" effect, as whitening products will further interfere with melanin production and make the skin more sensitive to sunlight.

Is there anything special to notice about the diet of albino patients?

There is no special dietary taboo, of course, because vitamin C can inhibit melanin production or reduce melanin, so patients with albinism should avoid a large number of oral vitamin C tablets. Daily vegetables, fruits, vitamin c content generally does not cause danger, so there is no special need to avoid.

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