Causes, symptoms and treatment of partial albinism

August 22, 2017 23:00 | Pigmentation

Very often people pay attention to themselves with a specific appearance, albinos.This pathology is considered congenital.Feature of albinos is white hair color, iris of the eyes, skin, nails.The very name of the pathology was derived from the Latin "albus".If you translate into Russian, you get "white".

The cases of albinism were recorded by scientists from Greece, Ancient Rome.We will talk about it today.So, we will consider the question of which mutation is considered skin albinism, according to which it is inherited by type, what kinds of albinism are observed in children and adults, and also other important nuances.

Features of the disease

Albinism is a congenital pathology.This disease occurs equally often in boys and girls.Its occurrence was provoked by the absence of a blockade of the tyrosinase enzyme.Tyrosinase regulates the synthesis of a special pigment - melanin on parts of the body such as the dermis, hair, the iris of the eyes.Pathology can be complete, partial.

What is most interest

ing, this disease is considered to be found on all continents, in different ethnic groups.It is attributed to hereditary pathologies.Usually albinos do not differ much from ordinary people( in the field of development), but cases when such people have pathologies are observed:

  • infertility;
  • mental retardation;
  • violation of visual acuity.

Now consider the types of albinism.

The essence of albinism, its type of inheritance, features are discussed in this video:

Forms

Albinism is divided into 3 forms:

  • total .This form of the disease is present from birth.Melanin is absent in all tissues( hair, pupils, nails, dermis);
  • incomplete .Known as albinoidism.The patient has hypopigmentation of such tissues( hair, iris of the eyes, dermis).This pathology is inherited by an autosomal dominant way.The tyrosinase activity is very low, but it is not completely blocked;
  • partial .This form is also known in the circle of medical workers, like piebaldism.It appears, like other forms, at birth.Partial albinism can be a symptom of such syndromes as: Tietze, Mende, Chedac-Higashi, Hermansky-Pudlac, Cross-McCusick, Klein-Waardenburg.It is more often manifested in such areas of the body as: abdomen, face, legs, head.

The causes of partial albinism, as well as its inheritance in humans, are discussed below.

Partial albinism( photo)

Albinizm-chastichnyj ASD5ASAS

Albinizm-chastichnyj Causes of

The absence of a blockade of an enzyme such as tyrosinase is the main cause of albinism. It is indispensable in the production of melanin.The color of the dermis is determined by the amount of melanin present in it.If the patient does not have any problems with tyrosinase production, experts believe that the cause of albinism is a mutation in the genes.DNA damage at the gene level can be the result of rare hereditary diseases( Mende, Prader-Willy, Germanic-Pudlac, Angelmann).

This pathology is usually inherited from parents.The probability of the occurrence of an albino child is 100% if both parents have a defective gene.If such a gene is found only in one of them, then the child will be born without albinism.

As for partial albinism, it is transmitted autosomal dominantly.

Symptoms of this type of disease as albinism are discussed below.

Symptoms

Partial albinism is usually manifested by areas of achromia( discoloration of the skin).At such sites, the boundaries are clearly delineated, their shape is irregular.On the surface of such areas of achromia there may be small spots, the color of which is often dark brown.

This pathology is found in such areas of the body:

  • face;
  • the scalp;
  • abdomen;
  • feet.

On the head, this pathology is manifested by the presence of a locks of gray hair.The areas of the dermis near the hypopigmented area are characterized by increased pigmentation.

The diagnosis of albinism is discussed below.

Diagnosis

Usually, the diagnosis is based on anamnesis of the disease, patient complaints( strabismus, sunburn, nearsightedness, soreness of the eyes in light).The doctor conducts a general examination of the patient, which reveals:

  • white, light skin;
  • eyes have a light blue color, sometimes even with a pink tinge;
  • hair light, white;
  • nystagmus( rapid eye movements that appear involuntarily);
  • strabismus.

Also, a specialist can conduct a chemical study of the hair follicle on tyrosinase.This diagnosis shows the presence / absence of tyrosinase, determines the type of albinism.DNA analysis can also be performed.Specialists detect the gene of albinism by means of special tests.

The selection of the sun protection for albinos is described below:

Treatment of albinism

Scientists of all countries are trying to find a successful method for treating this pathology.Unfortunately, all attempts are still unsuccessful.Specialists can only lighten the life of the patient a little:

  • to correct the ocular muscles;
  • to correct vision;
  • gives the skin a yellowish shade.For this, the patient should consume 90 to 180 mg every day.Beta-carotene.

To prevent light from causing discomfort in the eyes, it is recommended to wear sunglasses.To protect the skin, you can use various means with SPF above 30. The patient should regularly visit such specialists:

  • dermatologist;
  • ophthalmologist;
  • neurologist.

Albinizm-tipy

Albinizm-tipy

Modern technologies will detect any defects in the field of genetics in spouses, which can trigger the birth of albino.

Complications

A very unpleasant complication is the social isolation of the patient, the disturbance of the emotional state of the albino.

But there can be complications and more serious:

  • skin cancer;
  • dangerous skin burns.

Such people are characterized by frequent depressions, stresses due to discrimination from the rest of the population.

Forecast

Any therapy is useless. The main thing is to follow the recommendations of specialists, so that all sorts of complications from sight, psyche do not arise.

How to take care of an albino child will be told by a girl who has encountered such a problem in this video: