Albinism
Introduction
Introduction to Albinism Albinism (albinism) is a common disease caused by melanin deficiency in the skin and its accessory organs. Hereditary leukoplakia caused by a disorder of melanin synthesis due to congenital deficiency of tyrosinase or tyrosinase dysfunction. . This type of patient usually lacks melanin in the skin, hair and eyes of the whole body, so it appears as a pigment in the retina of the eye. The iris and pupil are pale pink, afraid of light, and always squinting when looking at things. Skin, eyebrows, hair, and other body hairs are yellowish in white or white. People refer to this type of patient as "the sheep white head." Albinism is a family hereditary disease that is autosomal recessive and often occurs in close relatives. Albinism is caused by a genetic abnormality controlling tyrosinase, a congenital metabolic abnormality with a defective melanin production process, belonging to a somatic recessive genetic disease, belonging to a single genetic disease (tyrosinase can tyrosine) Acid conversion to melanin). basic knowledge The proportion of illness: 1% Susceptible people: no specific people Mode of infection: non-infectious Complications: skin cancer
Cause
Causes of albinism
Early researchers had many different inferences about the causes of albinism, but they were not quite right. It was not until the early twentieth century that scientists truly affirmed that albinism was caused by genetic abnormalities in the control of tyrosinase, a congenital metabolic abnormality in which the melanin production process is defective, belonging to the somatic recessive genetic disease, belonging to a single gene. Genetic disease (tyrosinase converts tyrosine to melanin). Melanin, which is absent from albino patients, is produced in melanocytes.
Human pigment cells are mainly found in skin, hair follicles and eyes. The normal function of the cells is closely related to the activity of tyrosinase. This is because tyrosine is a raw material for melanin formation. As a locomotive that catalyzes a series of biochemical reaction steps; because the formation process of melanin is quite complicated, it often implicates lesions of other organ systems, such as abnormalities of optic nerve fibers, bleeding tendency, immune abnormalities, and waxy lipid accumulation. (some rare fat lesions) and other phenomena; but in addition to optic neuropathy, others are quite rare. This embodies that the gene controls the metabolic process by controlling the synthesis of the enzyme, thereby controlling the traits of the organism.
Prevention
Albinism prevention
In addition to symptomatic treatment of albino, there is no cure. Therefore, it should be based on prevention, that is, prohibiting marriage by close relatives through genetic counseling is one of the important preventive measures. At the same time, prenatal genetic diagnosis is also an important safeguard to prevent the birth of this child. . Prevention should minimize the damage of UV radiation to the eyes and skin.
Complication
Albinism complications Complications skin cancer
Due to the lack of melanin protection, the patient's skin is easily sunburned by ultraviolet light in the sun, and exposure to sunlight often causes skin cancer.
Symptom
Albinism symptoms Common symptoms Whole body hair is grayish white Congenital whitehead hair abnormal eyeball tremor eyebrows whitening tears photosynthetic mental retardation
Albinism The skin of the body is deficient in melanin and is milky 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 sunburn and various photoperceptive dermatitis are prone to occur after sun exposure. Photochemical cheilitis, telangiectasia, and solar keratosis often occur, and basal cell carcinoma or squamous cell carcinoma can occur. Due to lack of pigmentation in the eye, the iris is pink or light blue, often with symptoms such as photophobia, tearing, nystagmus and astigmatism. Most people with albinism have poor physical and mental development.
Examine
Albinism check
Laboratory examination: genetic examination, tumor marker examination.
Other auxiliary examinations: histopathological examination.
Diagnosis
Diagnosis and identification of albinism
It can be diagnosed according to congenital onset and clinical manifestations. There are pure white or pink spots at birth, and dermatitis is prone to occur after sun exposure, and the local boundary is obvious. Histopathology has transparent cells in the basal layer, and the number and appearance are normal. Silver staining proved that the melanin was lacking in the epidermis; the hair turned white or yellowish; the iris was pink, the pupil was red, and the photophobia.
