One of the varieties of pigment metabolism disorders is a rare "piebaldism" syndrome. It is characterized by patchy discoloration of the hair on the head. This is far from a harmless cosmetic defect, but a symptom of a large number of serious diseases.
In this article we will consider "piebaldism" in detail. Causes, symptoms, diagnosis, treatment will also be described.
Causes of hair bleaching
Violation of pigment metabolism occurs in the form of depigmentation - loss of pigment, hyperpigmentation - increased staining.
In hair color, 2 pigments matter - eumelinin, pheomelanin. They are located in the cortical layer of the hair. Eumelanin gives hair a black-brown color, pheomelanin yellow-red. The combination of these pigments in individual quantities and interaction with air gives the hair a certain color. Hair color is genetically programmed.
Is it commonpiebaldism syndrome, what is this disease?
When the melanocytes that synthesize hair pigments malfunction, gray hair develops with age. If this condition begins at a young age, this indicates a genetic pathology or serious diseases.
Diseases in which pigment metabolism suffers
Why does the "piebaldism" syndrome occur, what is this deviation?
When melanocytes malfunction, the following conditions develop:
- piebaldism in isolation;
- albinism;
- piebaldism combined with damage to the eyes, hearing organs, skin, nervous system, musculoskeletal system.
Clinical picture
How exactly does the "piebaldism" syndrome manifest itself, what does it mean?
Loss of hair pigment in the form of a white curl on the head can occur from birth and into adulthood.
The earlier a violation of pigment metabolism occurs, the more serious its cause, the more severe 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., nested darkening of skin areas on the anterior surface of the abdomen, thighs, legs, chest, arms, ranging in size from 1 mm to 6 cm.
Diseases behind piebaldism
There is a large group of diseases and developmental anomalies that combine, along with hair bleaching, serious damage to organs and systems. Early detection of pathologywill save the life of the child and save parents from many problems.
Waardenburg-Klein Syndrome
The disease has an autosomal dominant type of inheritance, that is, it occurs equally often in boys and girls. A genetic defect can be inherited from either parent.
Along with bleaching of the hair strands, general and ocular manifestations of the disease are observed.
Ocular symptoms of this disease:
- underdevelopment of eyelashes;
- grey hair on inner brows;
- narrow palpebral fissure;
- eyes of different colors;
- farsightedness;
- wide-set eyes.
General manifestations can be of varying severity:
- partial albinism;
- wide bridge of the nose;
- low rise;
- tooth development anomalies;
- Deaf-mutism or isolated hearing loss;
- anomalies in the development of internal organs;
- changing 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 an examination to rule out a serious pathology. That's what piebaldism is.
Wolfe Syndrome
Isolated heterochromia, i.e. different eye color is found mainly in animals. In humans, the frequency among the entire population is 1%.
Famous people with different eye colors: Mila Kunis ("Oz the Great and Powerful","Blood Ties", "Jupiter Ascending"), English actress Jane Seymour, known for the film "Live and Let Die", David Bowie - British rock singer, songwriter, producer, sound engineer, artist, actor.
Isolated heterochrony is a disease, and in combination with piebaldism is called Wolfe's syndrome and leads to rapidly developing deafness.
It is necessary to differentiate this disease with retinitis pigmentosa - dystrophy of the pigment epithelium of the eye. There is a variant of the course of this disease - retinitis pigmentosa without pigment.
Mother and daughter with piebaldism syndrome
The disease has a recessive inheritance linked to the female chromosome. A woman passes this gene on to her son, and he develops a disease. The daughters of these men are he althy if their mother is he althy. The only manifestation will be piebaldism.
If the mother is clinically he althy, but is a carrier of this gene, then the daughter will be sick.
Ophthalmoscopy is used to diagnose this disease, which reveals pigment spots on the fundus that look like moth pitting.
Ito Hypomelanosis
The disease develops from birth. Children of both sexes suffer equally often. Its 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.
Diagnosis is made clinically based on the following symptoms:
- pigmentless areas appear on the skinbizarre shape in the form of curls, snowflakes;
- on the palmar, plantar surfaces and mucous membranes such changes do not happen;
- in the temporal region, a section of bleached hair - piebaldism;
- with age areas of depigmentation become less visible;
- damage to the nervous system is always present, manifested by mental retardation, convulsive syndrome, decreased muscle tone;
- eye pathology is manifested by strabismus of varying 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 similar clinical symptoms, but the latter is inherited.
Pigment incontinence
Is the rare piebaldism syndrome transmitted?
The disease is passed from mother to daughter. Depending on the severity of the clinical picture, it manifests itself with the following symptoms:
- Eruptions on the skin in the form of long stripes, which, after drying and removing the crusts, leave patches of pigmentation. Rashes have an undulating course with the periodic appearance of new skin elements. As the child grows, these areas lose pigment and become pale.
- Violation of the growth and configuration of teeth, nails, hair in the form of nested depigmentation and baldness.
- Neurological disorders are manifested by a delay in psycho-speech development,increased intracranial pressure, convulsions, weakness in the arms and legs.
- Ocular disorders are intermittent and manifest as strabismus, nystagmus, cataracts, decreased vision, blindness.
Griscelli Syndrome
This is a group of diseases that can occur in three types, the main similarity of which is the presence of discolored areas of hair on the head. There are the following manifestations:
- Neurological disorders with hypopigmentation.
- The most dangerous type of disease, in which the "piebaldism" syndrome is combined with impaired hematopoiesis. Clinical manifestations: moderately elevated body temperature, not amenable to explanation and treatment. The severity of fever gradually increases, an increase in the liver, spleen, a decrease in erythrocytes, leukocytes, platelets, and fibrinogen in the blood join. The nervous system is the last to be involved in the process.
- Hypopigmentation of the skin and hair of varying severity, which for the time being proceeds without damage to blood cells and the nervous system. For the timely diagnosis of this dangerous pathology, it is necessary to consult a hematologist, dermatologist, genetics. The presence of various pigment metabolism disorders in the family is necessarily taken into account, an analysis is carried out to exclude gene mutations.
The relevance and danger of this disease is explained by the high frequency of its combination with Down syndrome, Edwards, Shereshevsky-Turner.
It is possible to detect skin and hair depigmentation at birth, but to establish the presence of Shereshevsky's syndrome-Turner is possible only as a person grows up, when short stature, lymphostasis, heart defects, increased blood pressure, underdevelopment of the mammary glands, low nipples, replacement of internal genital organs with connective tissue are noted. The intelligence of these patients practically does not suffer, the background of mood is almost always elevated, there is some positive euphoria, which explains the good social adaptation of these patients.
Conclusion
In humans, the gene for normal skin pigmentation is always dominant in relation to the gene responsible for the violation of pigment metabolism.
The main significance of pigmentation problems is that they are markers of dangerous chromosomal diseases, multiple congenital malformations.
In case of any violation of the metabolism of the pigment of the skin, mucous membranes, hair, a specialist consultation is necessary. We examined the "piebaldism" syndrome. What it is, it became clear.
