Syndrome "piebaldism": what is it, the causes, symptoms, diagnosis and treatment

One of the varieties of the violation of pigmental metabolism is a rare "piebaldism" syndrome. Characterized by nest discoloration of hair on the head. This is not an innocuous cosmetic defect, but a symptom of a large number of serious diseases.

In this article in detail we will consider "piebaldism". Causes, symptoms, diagnosis, treatment will also be described.

Causes of hair discoloration

Disturbance of pigmental metabolism is in the form of depigmentation - pigment loss, hyperpigmentation - intensification of staining.

In the color of the hair, the value of 2 pigments is eumulinin, pheomelanin. They are in the cortical layer of the hair. Eumelanin gives the hair a black-brown color, pheomelanin - yellow-red. The combination of these pigments in individual amounts and interaction with air gives the hair a certain color. Hair color is genetically programmed.

Does the syndrome "piebaldism" often occur, what kind of illness is it?

When the melanocytes, synthesizing pigments of hair, are broken, gray hair develops with age. If this condition begins at a young age - this indicates a genetic pathology, or serious diseases.

Diseases in which pigmental exchange is affected

Why there is a syndrome "piebaldizm", what is this deviation?

When the melanocyte is broken, the following conditions develop:

• Piebaldism in isolated form;
• albinism;
• Piebaldism in combination with eye damage, hearing organs, skin, nervous system, musculoskeletal system.

Clinical picture

How exactly does the syndrome "piebaldism" manifest itself, what does it mean?

The loss of pigment hair in the form of a white curl on the head can occur from birth and into adulthood.

The earlier there is a violation of pigment metabolism, the more serious its cause, the more serious the consequences.

Isolated discoloration of the curl is combined with the area of discoloration on the forehead. It is accompanied by the appearance of foci of hyperpigmentation, i.e. nodular darkening of skin areas on the front surface of the abdomen, thighs, shins, chest, arms from 1 mm to 6 cm in size.

Diseases hiding behind piebaldism

There is a large group of diseases and developmental anomalies that combine, along with bleaching hair, serious damage to organs and systems. In time, the revealed pathology will save the life of the child and save parents from many problems.

The syndrome of Waardenburg-Klein

The disease has an autosomal dominant type of inheritance, i.e., it is equally common in boys and girls. A genetic defect can be inherited from any of the parents.

Along with the discoloration of hair strands, general and ocular manifestations of the disease are observed.

Eye symptoms of this disease:

• Underdevelopment of eyelashes;
• Gray hair on the inside of the eyebrows;
• Narrow eye gap;
• Eyes of different colors;
• Farsightedness;
• Wide-set eyes.

General manifestations can be of different degrees of severity:

• Partial albinism;
• Wide back of the nose;
• Low growth;
• Abnormalities of tooth development;
• Deaf-mute or isolated hearing loss;
• Anomalies in the development of internal organs;
• Change in the size of the skull.

Given that at first the degree of severity of the disease is minimal and manifested only by piebaldism, it is necessary to undergo a survey to exclude serious pathology. That's what piebaldism is.

Wolfe's syndrome

Isolated heterochromia, that is, a different color of the eyes is found mainly in animals. In humans, the frequency among the entire population is 1%.

Famous people with a different eye color: Mila Kunis ("Oz: Great and Dreadful", "Bloody Ties", "The Rise of Jupiter"), English actress Jane Seymour, known for the film "Live and Let Die," David Bowie - Singer, songwriter, producer, sound engineer, artist, actor.

Isolated heterochrony is a disease, and in combination with piebaldism is called Wolf's syndrome and leads to rapidly developing deafness.

Differentiate this ailment is necessary with pigment retinitis - dystrophy of the pigment epithelium of the eye. There is a variant of the course of this disease - pigment retinitis without pigment.

Mom and daughter with the syndrome "piebaldism"

The disease has a recessive, coherent with the female chromosome inheritance. A woman transmits this gene to her son, and he develops a disease. Daughters of these men are healthy, if their mother is healthy. The only manifestation will be piebaldism.

If the mother is healthy clinically, but is the carrier of this gene, then the daughter will be sick.

To diagnose this disease, ophthalmoscopy is used, which reveals pigmentation spots on the fundus, similar to moth erosion.

Hito's Hypomelanoz

The disease develops from birth. Children of both sexes suffer equally often. His hereditary transmission from parents to offspring has not been proven, but the disease is always combined with congenital defects in the development of internal organs.

The diagnosis is made clinically on the basis of the following symptoms:

• On the skin integument there are non-pigmentary patches of bizarre form in the form of curls, snowflakes;
• On palmar, plantar surfaces and mucous membranes such changes do not happen;
• In the temporal region the area of the discolored hair is piebaldism;
• With age, the areas of depigmentation become less noticeable;
• The defeat of the nervous system is always, manifested by mental retardation, convulsive syndrome, a decrease in muscle tone;
• The pathology of the eyes is manifested by strabismus of varying degrees of severity;
• Accompanied by scoliosis, deformity of the chest, limbs in 25% of cases;
• With a frequency of 10% is combined with heart defects.

Differentiate this disease from a condition called pigment incontinence. They have a similar clinical symptomatology, but the latter is inherited.

Incontinence of pigment

Is there a rare syndrome of "piebaldism"?

The disease is transmitted from mother to daughter. Depending on the severity of the clinical picture is manifested by the following symptoms:

• Rashes on the skin in the form of long strips, which after drying and removing the crusts leave the pigmentation areas. Rashes have a wavy course with the periodic appearance of new skin elements. With the growing up of a child, these areas lose their pigment and become pale.
• Disturbance of growth and configuration of teeth, nails, hair in the form of nodular depigmentation and alopecia.
• Neurological disorders are manifested by a delay in psycho-speech development, increased intracranial pressure, convulsions, weakness in the arms and legs.
• Eye disorders are unstable and are manifested by strabismus, nystagmus, cataract, vision loss, blindness.

Griescelli Syndrome

This is a group of diseases that can occur in three types, the main similarity of which is the presence of discolored sections of hair on the head. There are the following manifestations:

• Neurological disorders with hypopigmentation.
• The most dangerous type of disease, in which the syndrome "piebaldism" is combined with a violation of hematopoiesis. Clinical manifestations: moderately elevated body temperature, not amenable to explanation and treatment. The severity of fever gradually increases, the increase in the liver, spleen, reduction of red blood cells, leukocytes, platelets, fibrinogen in the blood. The latter is involved in the process of the nervous system.
• Hypopigmentation of the skin and hair of varying severity, which until then flows without damage to blood cells and the nervous system. For the timely diagnosis of this dangerous pathology consultation of the hematologist of a dermatologist, genetics is necessary. It is necessary to take into account the presence in the family of various disorders of pigment metabolism, an analysis is carried out to exclude gene mutations.

The urgency and danger of this disease is explained by the high frequency of its combination with Down syndrome, Edwards syndrome, Shereshevsky-Turner syndrome.

Identification of depigmentation of the skin and hair can be at birth, but it is possible to establish the presence of Shereshevsky-Turner syndrome only as a person grows up, when low stature, lymphostasis, heart defects, increased blood pressure, mammary gland malopresence, low position of the nipples, replacement of the internal genital organs of the connective Cloth. The intellect practically does not suffer from these patients, the mood background is almost always increased, there is a certain positive euphoria, which explains the good social adaptation of these patients.

Conclusion

In humans, the normal skin pigmentation gene is always dominant in relation to the gene responsible for the pigment metabolism disturbance.

The main importance of problems with pigmentation lies in the fact that they are markers of dangerous chromosomal diseases, multiple congenital malformations.

With any violation of the exchange of skin pigment, mucous, hair, specialist consultation is necessary. We considered the syndrome "piebaldism." What it is, it became clear.