Definition
Definition
Albinism is a genetic anomaly that can occur in children whose parents do not have albinism.
Generalities
Children with albinism are born with very light , almost white , skin and hair color due to the absence of pigments (melanin, which protects the skin from the sun's radiation and usually gives a more or less colored complexion that varies from individual to individual).
Classification
Oculocutaneous albinism is a group of rare, inherited diseases characterized by total or partial depigmentation of the skin, hair and fur with ocular disorders.
In albinism, the number of melanocytes , that is, the cells that produce melanin , is normal, but at the genetic level, mutations are observed in the tyrosinase gene, that is, the enzyme that is necessary for the production of melanin pigment.
The transmission of this disease occurs in an autosomal recessive manner , meaning that it is necessary for both parents to carry the genetic abnormality for the offspring to exhibit the disease.
Symptoms
Symptoms
People with albinism are called albinos.
They have white hair and pink eyes with a hint of violet.
Their vision is poorer than that of other individuals.
They are prone to sunburn and are probably more likely to develop skin cancer.
We also note that the eyes are pink with translucent, bluish-grey irises.
physiology
The name given to the different types of dark pigments (from black to reddish-brown) found in the skin, hair, and choroid (the membrane of the eye). The amount of melanin in an individual depends on several factors:
- Heredity.
- hormones coming to stimulate the melanin.
- Factors pathological conditions such as albinism.
- Melanin determines the skin color and hair but also that of iris, to which it gives rather dark shades. The blue coloring of the eyes is the translation of its absence in the deep layers of the iris.
- The role of melanin is to protect the skin from ultraviolet radiation of the sun which accentuate the aging process and that of the cancer skin.
- The metabolisms (functioning and action in the body) of the vitamin D, and more particularly its synthesis (manufacture) under the effect of light rays, are linked to the greater or lesser quantity of melanin. Thus, in certain latitudes, and more particularly in cold countries, an individual whose skin contains a large quantity of melanin (black race) is more exposed to rickets than a white person (rickets being partly due to a vitamin D deficiency).
- During aging, these melanin pigments seem to gradually lose their properties. But scientists do not all agree on this point. For some, the number of pigments would decrease as we age. For others, it would be a problem with the distribution of these pigments in the skin, which would explain the appearance of so-called age spots.
Epidemiology
The frequency of albinism is high in subjects with dark skin.
Treatment
Treatment
There is no truly effective treatment.
Sun exposure must be strictly avoided in order to prevent the development of skin cancer.
Protection from the sun is achieved by using total sunblock cream and wearing dark sunglasses.
However, this is insufficient in most cases.
Evolution
Premature
In some patients, severe eye disorders are associated with albinism.
These are photophobias , meaning that patients cannot tolerate light, and a decrease in visual acuity (decreased vision).
In some patients, serious general signs are also observed, such as a tendency towards recurrent bleeding and infections.
Prevention
For all these reasons, they are advised to protect themselves effectively against solar radiation, by using a high protection factor cream and wearing tinted glasses.
Patients should be warned of a particular susceptibility to developing skin cancers.