There is a group of hereditary diseases that are characterized by massive damage to the skin, nervous system and other important organs. What is neurocutaneous melanosis? In this brief review, we have collected complete information about this rare disease, so we will tell you about the main symptoms of the disease and how to get rid of it.

Neurocutaneous melanosis is a fairly rare disease.

reference Information

The disease was first recorded in the second half of the 19th century by the German scientist Rudolf Virchow. After 120 years, the name neurocutaneous melanosis was officially recognized. The origin and culprits of the disease have not been precisely established. Doctors believe that the occurrence of abnormalities is an early somatic mutation. As a result of chromosome breakage, the movement of melanocytes is disrupted, which leads to their accumulation on the skin and central nervous system.

The disease is rare and often inherited. Children are born without any abnormalities in weight or skin color. The only indicator of the presence of the disease is a nevus - a small mole or tumor that has a different color (from dark brown to deep black) and shape. The rough surface of the spot is covered with fine hairs. The formation rises slightly above the level of the dermis.

The surface is rough and bumpy, covered with crusts. Nevi have irregular outlines.

Most often the disease is recorded:

• lumbosacral region;
• on the neck and back of the head;
• on the back.

The disease is complex and does not have any sexual preferences. Destructive actions affect:

• vessels (blood, lymphatic);
• sebaceous and sweat glands;
• hair follicles;
• subcutaneous tissue;
• muscles;
• skeleton.

Initially, the child develops without any deviations. But from the second year of life, characteristic signs begin to appear.

• Mental retardation. The inability to quickly and effectively learn and remember becomes noticeable.
• Cramps. Epileptic seizures occur due to the penetration of melanoblastomas into the brain.
• The appearance of nevus on other parts of the body. The spots invade new areas, growing and changing shape.
• Mutation. The tumor is activated, as a result of which doctors note a modification of color and structure. An unpleasant itching occurs.
• Neurological transformation. The meninges thicken and melanomas and benign neoplasms appear in the organ tissue, and cysts often appear. Externally, this manifests itself in the form of increased intracranial pressure from the first year of life.

Children with the disease suffer from birth defects heart or bone changes. Sometimes pigment is deposited at the bottom of the eye, which causes cataracts. In combination with tumors of various natures, nevi gradually degenerate into oncology. This serious and terrible disease occurs in more than 50% of patients with melanosis.

Sometimes pigment is deposited at the bottom of the eye

Treatment

To draw up a treatment plan, the specialist collects information about the medical history and conducts a series of tests. A biopsy of the affected area of ​​the dermis will help assess the condition of the muscles and skin. For a complete clinical picture, ultrasound data must be considered. Parents are worried that they have to take a lot of tests. Such checks are aimed at getting an idea of ​​the extent to which the body is affected by the disease. Scintigraphy, MRI, CT are mandatory procedures.

There is still no effective cure or method for neurocutaneous melanosis. For more than 150 years, scientists around the world have been trying to find a safe solution to get rid of a dangerous disease. Therapy follows a specific regimen prescribed by the doctor. They use drugs that block the growth and reproduction of pathogenic cells. Drugs that affect protein and carbohydrate metabolism have an antishock and antitoxic effect, so they are taken in increased doses.

To reduce seizures, the doctor prescribes anticonvulsants. Additionally, it is necessary to support the immune system, which recombinant cytostatics must cope with.

If the disease was diagnosed in the first years of life, then the specialist decides on surgical intervention. Early tumor removal will reduce the negative impact of the disease on the child's development.

If a nevus is detected on the baby’s body, then it is better to immediately visit a doctor. A professional will carefully monitor all transformations in the body and begin treatment at the first changes. To prevent a hairy mole from mutating into melanoma, they may suggest excision of the skin followed by transplantation of healthy samples.

The progression of neurocutaneous melanosis intensifies pathological processes. Activation of the disease and the capture of a larger area of ​​the dermis cannot be stopped by radiation therapy. Patients rarely live beyond the age of twenty-five. Remember: the more attentive you are to your baby, the greater the chance of finding the disease before destructive activity begins.

If similar problems have been recorded in the family, then the child is at risk.

Neurocutaneous melanosis is a dangerous hereditary disease that is very difficult to cure if neglected. Our recommendations will help you determine the symptoms, and entrust the therapy to a professional oncologist.

Constant scratching and rubbing leads to hyperpigmentation secondary to the increased amount of melanin in the skin, and the combination of melanin and bile pigments gives the skin a bronze color.

Melanosis uremic

In patients with chronic renal failure, hyperpigmentation of the skin may occur: in 30% of cases it is localized only on the palms and soles, in 22% of cases it is diffuse or located on open areas of the body.

The cause of hyperpigmentation is an increase in the amount of melanin in the basal layer of the epidermis and the superficial layers of the dermis. It is assumed that in such patients the metabolism of 6-melanocyte-stimulating hormone is reduced due to kidney disease, which leads to an increase in the level of this hormone in plasma.

This hormone, in turn, stimulates the production of melanin by melanocytes. Initially, with kidney disease (chronic interstitial nephritis), a diffuse brown coloration of the skin occurs. Subsequently, depending on the severity of renal anemia and with the progression of chronic renal failure, the skin pigmentation gradually acquires an ash-gray tint.

Melanosis cachectic

Currently, the dependence of increased skin pigmentation on severe chronic diseases accompanied by general cachexia, anemia and marasmus (tuberculosis, malignant tumors, peritonitis and others) is unclear.

In this case, changes in the skin can be further aggravated by hyperkeratosis and hypertrophy of the papillae, resulting in the picture of acanthosis nigricans: the skin thickens, darkens, and becomes similar to shagreen. Hyperpigmentation has a dirty brown color and is localized on the neck, abdomen and genitals.

It is believed that this melasma is an abortive form of Addison's disease, which is why it is called "Addisonism." However, with this melanosis, darkening of the skin of the face and limbs is not observed, and there is no damage to the mucous membranes. It is possible that these changes are based on some “toxic” influences or increased protein breakdown, which is known to be important for the formation of melanin.

Melanosis of the skin is an excessive deposition of the melanin pigment in the epidermis. This substance is produced by special cells (melanocytes) and is designed to protect skin cells from the sun's rays. Light-skinned people produce this pigment in smaller quantities than dark-skinned people. Normally, melanin is activated only under the influence of ultraviolet light. In this case, a tan appears on the skin. If this pigment is deposited in large quantities, a disease occurs - melanosis. It is accompanied by a change in skin color.

Causes of the disease

Melanosis of the skin can be caused by various reasons. Changes in the color of the epidermis can be caused by the following factors:

• pathologies of the endocrine glands (pituitary gland, adrenal glands, ovaries, thyroid gland);
• infectious diseases(syphilis, dysentery, tuberculosis, malaria);
• carbon compounds and toxic resins;
• advanced forms of pediculosis;
• liver diseases;
• blood diseases (porphyria);
• pathology of connective tissue (collagenosis);
• taking medications (sulfonamides, tetracycline antibiotics, photosensitizing drugs).

In addition to pathological reasons, changes in skin color can occur due to poor nutrition and metabolic disorders in the epidermis. There is also a hereditary form of melanosis, in which the disease is transmitted from parents to children.

Localized and generalized forms

There are localized and generalized types of melanosis of the skin. What does this mean? In the first case, pigmented areas appear on the epidermis. With generalized melanosis, the color of the entire skin changes.

Most often, generalized melanosis of the skin is observed with Addison's disease, pituitary pathologies, diabetes, collagenosis, arsenic poisoning, as well as with an excess of porphyrins in the blood. In this case, the entire human skin becomes bronze in color.

Localized melanosis is a symptom of the following diseases:

1. Poikiloderma Siwatt. This pathology occurs in women of childbearing age. The disease is associated with a functional malfunction of the ovaries or adrenal glands.
2. Riehl's melanosis. The cause of this disease is not exactly clear. It is believed to be caused by contact with hydrocarbons.
3. Toxic melasma of Hoffmann-Habermann. This disease occurs only in men. It is caused by poisoning with hydrocarbon substances. This disease usually affects people who sweat excessively.

With the above diseases, pigmented spots are noted on the patient’s face and neck. At the same time, other areas of the skin do not change their color.

Types of pathology by origin

There is also a classification of pathology depending on its origin. The following types of skin melanosis are distinguished:

1. Uremic. It is observed in case of insufficiency of kidney function.
2. Endocrine. Occurs with diseases of the adrenal glands, pituitary gland, ovaries or thyroid gland.
3. Toxic. It is caused by arsenic and hydrocarbon poisoning.
4. Hepatic. This form of melanosis is associated with cirrhosis, hepatitis and other liver diseases.
5. Cachectic. It is observed with severe exhaustion, most often with pulmonary tuberculosis.

These forms of pathology are secondary. Melanosis in these cases is only one of the symptoms of other diseases. However, there are also primary forms of cutaneous melanosis. Some of them are dangerous because they are prone to malignant degeneration. These types of pathologies include the following diseases:

1. Chloasma. These are large brown spots on the epidermis. They usually appear on the face. The reasons for their appearance have not been established. Supposed. that they are formed due to hormonal disorders.
2. Lentigo. These are small yellow or benign formations. However, with injury or excessive exposure to the sun, malignant degeneration of cells is possible.
3. Becker's melanosis. This disease mainly affects young men. A mole appears on the skin, which is then covered with thick hair. This formation is not dangerous, as it does not degenerate into cancer.
4. This formation occurs in people over 50 years of age. It appears as a raised brown spot, similar to a mole. This disease is a precancerous condition and requires immediate treatment. The neoplasm consists of atypical melanocytes, which easily degenerate into malignant cells.

Symptoms

Symptoms of pathology depend on its form and cause. If the patient's entire skin turns bronze or yellowish, this indicates a generalized form of cutaneous melanosis. Photos of the manifestations of the disease can be seen below.

If melanosis occurs in a localized form, then the rash is observed only on the face and neck. In toxic melasma, these areas of the body are uniformly colored grayish-yellow. Rashes in the form of age spots, moles and freckles are most often of a primary nature.

Complications

If melanosis is secondary, then one should not be afraid of malignant degeneration of the rash. In this case, only the underlying disease poses a health hazard. If melanosis is primary in nature, and a mole or spot appears on the skin, then you should immediately consult a doctor. Some of these formations are prone to malignant degeneration and can develop into skin cancer - melanoma. Malignancy (malignancy) of a mole is indicated by its accelerated growth, changes in shape and color, the appearance of ulcers and bleeding. Malignancy can be triggered by exposure to ultraviolet rays and trauma to the formation. It should be remembered that moles covered with hair are not dangerous.

Diagnostics

Melanosis is treated by a dermatologist. However, if the change in skin color is caused by other diseases, then consultation with an endocrinologist, therapist, infectious disease specialist and other specialists is necessary.

The following examinations are prescribed:

1. The patient's skin is examined using a special black light lamp (Wood's lamp).
2. A biopsy of the affected skin is performed. Particles of the epidermis are taken for histological examination.
3. They do a dermoscopy. This is an absolutely painless examination that does not require excision of the affected areas. New growths on the epidermis are examined under a special device - a dermatoscope.

Dermoscopy allows you to examine the mole in detail. If there is doubt about the benign quality of the formation, then a biopsy is prescribed. Histological examination allows one to distinguish a melanoma tumor from cutaneous melanosis. A microscopic specimen of the epidermis can be seen in the photo above; black-brown granules are accumulations of melanin.

Treatment

If melanosis is secondary, then it is necessary to treat the underlying disease. In this case, the skin color returns to normal after the end of the course of therapy. For primary melanosis of the skin, treatment is carried out using both conservative and surgical methods. The following drugs are prescribed:

• vitamins A, E, ascorbic and nicotinic acid;
• corticosteroid hormones;
• antihistamines.

External preparations are also used:

• hydrogen peroxide;
• creams and ointments with vitamin A;
• citric acid solution.

Nowadays, there are cosmetic procedures that help whiten the skin and eliminate blemishes. However, before using such methods, it is necessary to undergo diagnostics and make sure that the tumor is benign. The following procedures will help get rid of spots on the skin:

1. Chemical peeling. A special composition is applied to the face, which helps exfoliate the upper layer of the epidermis.
2. Phototherapy. The skin is exposed to pulsed light. This causes a change in the structure of melanin. As a result, the epidermis whitens.
3. Laser resurfacing. Under the influence of a laser beam, the problem area of ​​the skin evaporates.

In some cases, surgical treatment is indicated. This is necessary when the mole is prone to malignancy. The nevus is removed under local anesthesia, and the resulting material is sent for histological examination. If the operation cannot be performed, then irradiation of the mole is used.

Prevention

Prevention of secondary forms of melanosis involves timely treatment of diseases that lead to changes in skin color. Great care should also be taken when working with arsenic and hydrocarbon compounds. Prevention of primary forms of melanosis has not been developed, since the causes of their occurrence are not known. If moles and spots appear on the skin, you should consult a dermatologist as soon as possible. Such rashes can be dangerous. In these cases, it is necessary to avoid exposure to sunlight and trauma to moles and spots.

Skin inflammation is a condition in which the body accumulates excess amounts of a pigment called melanin.

Melanosis can be physiological (for example, in some races due to excess sunlight, or during pregnancy), or pathological, when accumulation occurs in those places and organs where it should be normal.

Pathological accumulation usually occurs on organs, in the membrane of the brain, on mucous membranes, and in the substance of the brain.

The formation of melanin is regulated by the sympathetic nervous system and endocrine glands. Therefore, the most common cause is dysfunction of these systems.

Reasons for development

The reasons for the development of the accumulation process are not fully understood. Among the most likely are:

• heredity;
• irregularities in work endocrine system(insufficiency of the adrenal cortex, improper production of the hormone by the pituitary gland, pathology of the gonads);
• vitamin deficiency (pellagra, scurvy, etc.).

Kinds

Scientists identify several types of the disease. Pathological melanosis can be:

• congenital:
  • reticular progressive;
  • Excessive melanoblastosis.
• purchased:
  • diffuse;
  • focal.

The reticular progressive type is very rare. It is associated with increased skin sensitivity to sunlight. It manifests itself in the form of patchy pigmentation, as well as the formation of melanophores in the skin, hyperkeratosis and swelling of the skin.

The excessive type is usually diagnosed in babies under 1 month of age. It is tumor in nature and is associated with metastases of maternal melanoma that cross the placenta. Such a newborn will have dark areas on the skin, and melanin is found in the nucleus of nerve cells and in the brain. Histological analysis reveals clusters of nevus- and melanophore-like cells, which contain a lot of pigment.

Acquired types of the disease are much more common.

The diffuse type affects the skin and is associated with disruption of the endocrine system. Often diagnosed with Addison's disease. Focal affects internal organs, especially the intestines. It most often affects people with intestinal obstruction, as well as chronic constipation. Localization occurs in the ileocecal region, sigmoid and rectum. The mucous membrane becomes brown or black.

Treatment

Treatment is carried out with hormone therapy and large amounts of vitamin C.

For external use, creams are prescribed that contain kojic and azelaic acid, as well as hydroquinone and tretinoin.

Laser stain removal is prescribed in particularly severe cases. If the formation of melanotic spots on the skin is caused by hormonal drugs, their use should be stopped. In pregnant women, the spots disappear on their own after childbirth and normalization of the hormonal system.

There are also a number of folk remedies that can help remove melanosis spots from the skin.

You can prepare masks at home from:

• banana (apply the crushed fruit to the stains and leave for 15 minutes);
• eggplant (use the pulp wrapped in gauze - leave on the stain for 15 minutes);
• oxygenated water (washing will have a positive effect on skin color);
• honey, milk powder and lemon juice (mix until smooth and apply to face for 20 minutes. Then rinse and anoint face with yogurt);

Melanosis is hereditary, so if there have been cases of the disease in the family, a person needs to take more care of himself, use good sunscreen, and not take medications that can cause such a reaction.