The disease is inherited in an autosomal recessive manner. In the pathogenesis of Werner's syndrome, a large role is assigned to hereditary endocrine disorders; Pavlik and Corp (F. Pavlik, W. Cohr, 1971) believe that the disease is based on the defeat of connective tissue, which prematurely undergoes degenerative and atrophic changes. Burnett (J.W. Burnett, 1968) notes a decrease in the level of alkaline phosphatase in the blood serum of patients.
Pathohistology of the skin: atrophy of the epidermis, skin appendages, thinning of collagen fibers, dystrophy of elastic fibers, especially in the lower dermis.
Clinical picture
The disease usually manifests itself at the age of 20-30 years, more often men are ill. The patient is characterized by a high and hoarse (so-called fistular) voice; a decrease in intelligence is possible.
The skin of the limbs, especially the lower ones, as well as the face, becomes pale, thinned, somewhat compacted to the touch, sharply stretched, and therefore a network of superficial blood vessels is clearly traced. The subcutaneous fat and underlying muscles atrophy, resulting in the limbs becoming disproportionately thin. The slightest trauma to the skin leads to the formation of persistent trophic ulcers, most often on the feet. Facial features are sharpened; comes to light so-called. a bird's nose, a chin protrudes sharply, the mouth opening narrows (figure), which makes the face look like a scleroderma mask (see Scleroderma). There is a limitation of the mobility of the fingers of the hands, reminiscent of sclerodactyly, degenerative changes in the nails, areas of hyperkeratosis on the soles. Fat and perspiration are reduced as a result of atrophy of the sebaceous and sweat glands. Hair becomes thin, dystrophic, premature graying and diffuse alopecia are characteristic. Patients are stunted. Slowly progressing adolescent cataract develops, premature atherosclerosis, accompanied by impaired activity of the cardiovascular system. Damage to the osteoarticular system is manifested by generalized osteoporosis and osteoarthritis, leading to limited joint mobility. In the endocrine system, various disorders are observed, manifested by hypogonadism (see), insulin-resistant diabetes - in 65% of cases, according to Rosen (R. S. Rosen, 1970), changes in the functions of the thyroid and parathyroid glands. Calcium metabolism is impaired (osteoporosis, heterotopic calcifications in the skin and other tissues).
A frequent combination of this syndrome with various malignant neoplasms (carcinoma of the mammary glands, thyroid adenocarcinoma, osteosarcoma, and others) has been described.
Diagnosis
For the diagnosis of Wörner's syndrome, it is important to identify a complex - a characteristic lesion of the skin (atrophic processes), eyes (cataracts), endocrine, bone and cardiovascular systems of the body - developing at the age of 20-30 years.
Differentiate Werner's syndrome follows with Rothmund's syndrome, from which Werner's syndrome differs in a later onset of the disease, characteristic changes in the skin of the limbs and face with a tendency to form trophic ulcers, and others (see Rothmund's syndrome); with Hutchinson-Guildford syndrome (see Progeria), which differs from Wörner's syndrome by an earlier manifestation, impaired tooth development, hydrocephalus, and others. The great clinical similarity with systemic scleroderma is not confirmed histologically. See also Anhydrotic syndromes.
Werner syndrome (O. Werner, German physician; syn. adult progeria) is a hereditary symptom complex of premature aging of the body, manifested by damage to the skin, eyes, endocrine, bone and other body systems. Described in 1904 by Werner under the name "cataract in combination with scleroderma."
The disease is inherited in an autosomal recessive manner. In the pathogenesis of Werner's syndrome, a large role is assigned to hereditary endocrine disorders; Pavlik and Corey (F. Pavlik, W. Korp, 1971) believe that the disease is based on the defeat of connective tissue, edges prematurely undergoes dystrophic and atrophic changes. Burnett (J.W. Burnett, 1968) notes a decrease in the level of alkaline phosphatase in the blood serum of patients.
Pathohistology skin: atrophy of the epidermis, skin appendages, thinning of collagen fibers, dystrophy of elastic fibers, especially in the lower dermis.
Clinical picture
The disease usually manifests itself at the age of 20-30 years, more often men are ill. The patient is characterized by a high and hoarse (so-called fistular) voice; a decrease in intelligence is possible.
The skin of the limbs, especially the lower ones, as well as the face, becomes pale, thinned, somewhat compacted to the touch, sharply stretched, and therefore a network of superficial blood vessels is clearly traced. The subcutaneous fat and underlying muscles atrophy, resulting in the limbs becoming disproportionately thin. The slightest trauma to the skin leads to the formation of persistent trophic ulcers, most often on the feet. Facial features are sharpened; comes to light so-called. a bird's nose, the chin protrudes sharply, the mouth opening narrows (Fig.), which gives the face a resemblance to a scleroderma mask (see. Scleroderma). There is a limitation of the mobility of the fingers of the hands, reminiscent of sclerodactyly, degenerative changes in the nails, areas of hyperkeratosis on the soles. Sebum and sweating are reduced as a result of atrophy of the sebaceous and sweat glands. Hair becomes thin, dystrophic, premature graying and diffuse alopecia are characteristic. Patients are stunted. Slowly progressing adolescent cataract develops, premature atherosclerosis, accompanied by impaired activity of the cardiovascular system. Damage to the osteoarticular system is manifested by generalized osteoporosis and osteoarthritis, leading to limited joint mobility. In the endocrine system, various disorders are observed, manifested by hypogonadism (see), insulin-resistant diabetes - in 65% of cases, according to Rosen (R. S. Rosen, 1970), changes in the functions of the thyroid and parathyroid glands. Calcium metabolism is impaired (osteoporosis, heterotopic calcifications in the skin and other tissues).
A frequent combination of this syndrome with various malignant neoplasms (carcinoma of the mammary glands, thyroid adenocarcinoma, osteosarcoma, etc.) has been described.
Diagnosis
For the diagnosis of Werner's syndrome, it is important to identify a complex - a characteristic lesion of the skin (atrophic processes), eyes (cataracts), endocrine, bone and cardiovascular systems of the body - developing at the age of 20-30 years.
Treatment symptomatic. Dispensary supervision of a dermatologist, ophthalmologist, endocrinologist is necessary.
Forecast adverse. Patients rarely live more than 40 years. The cause of death can be violations of the cardiovascular system, malignant tumors, intercurrent diseases, etc.
Bibliography: Krasnov BI and Kamenetsky IS About Werner's syndrome, Ophthalm, zhurn., No. 2, p. 142, 1967; Ponomareva E. D. and Sagaidachnykh N. A. To the clinic of progeria, Ter. architect, vol. 27, c. 3, p. 77, 1955; Sokolov D.D.On progeria, Probl, endocrinol. and hormonotherapy, vol. 1, no. 3, p. 111, 1955, bibliogr .; Burnett J. W. Werner's syndrome, Sth. med. J. (Bgham, Ala.), V. 61, p. 207, 1968; Pavlik F. u. Korp W. Werner - Syndrom, Wien. med. Wschr. S. 87, 1971; Rosen R. S., Cimini R. a. Coblentz D. Werner's syndrome, Brit. J. Radiol., _V. 43, p. 193, 1970; Werner C.W.O. Uber Katarakt in Verbindung mit Sklerodermie, Diss., Kiel, 1904.
S. S. Kryazheva.
Werner's syndrome, also called progeria, is an inherited condition associated with premature aging and an increased risk of cancer and other diseases. Symptoms usually develop during childhood or adolescence.
A person with Progeria does not have the usual height of a teenager, tends to be shorter than others. Signs of aging, including wrinkles, gray hair, and hair loss, can appear in your 20s.
By the age of 30, cataracts or clouding of the lens of the eye, type 2 diabetes, skin ulcers, nose with beak, cancer, osteoporosis - a decrease in bone mineral density develop.
One of the most significant health problems faced by people with Werner's syndrome is the early development of various types of cancer and atherosclerosis, called hardening of the arteries.
Two main subtypes of progyria have been described, for adults and children. In the clinical form of a child, this disorder is called Hutchinson-Guildford syndrome, while the adult form is called Werner syndrome (SW) (Sanjuanelo and Otero, 2010).
Children with Werner's syndrome often appear unusually thin and have an unusually slow growth rate in late childhood. In addition, there is no growth spurt that usually occurs during adolescence.
Affected individuals usually reach their final height at about 13 years of age. Adult height can be reached as early as 10 to 18 years of age. Weight is also unusually low, even relatively small in stature.
Before the age of 20, most people with Werner's syndrome develop early graying. By about age 25, affected people may experience premature loss of scalp hair (alopecia), loss of eyebrows and eyelashes. In addition, hair in the armpits, pubic region, and chest is unusually sparse or absent.
Hypogonadism
According to reports in the medical literature, hair loss seen in patients with Werner's syndrome may be secondary to dysfunction of the ovaries in women or the testes in men (hypogonadism), an endocrine condition associated with insufficient growth and sexual development.
Both men and women suffer from hypogonadism. As a result, affected boys have unusually small penis and small testes.
Some women with the disorder do not develop secondary sexual characteristics (appearance of axillary, pubic hair, breast development, menstruation) and have poorly developed genitals.
Menstruation may be irregular. Because of hypogonadism, most people with the disorder are infertile. However, there are reports confirming that some of the affected men and women have children.
Other symptoms
Other progressive degenerative changes appear:
- gradual loss of the layer of fat under the skin;
- atrophy of the muscles of the arms, legs;
- premature, generalized loss of bone density (osteoporosis), a condition that encourages re-fracture after minor injury
- dental problems, including abnormal development and premature tooth loss.
About one third of people with Werner's syndrome have an abnormal accumulation of calcium salts (calcification) and associated hardening of soft tissues (ligaments, tendons), especially at the elbows, knees, ankles.
Skin problems
At about 25 years old, people with the disorder develop, especially the face, arms, and legs are affected.
Skin atrophy in areas of depletion of adipose, connective and muscle tissue results in an unusually shiny, "waxy", smooth or "sclerodermic" appearance.
Open ulcers develop in the affected areas due to a decrease in the supply of oxygenated blood to the tissue (ischemia). Ulcers are often chronic and slow to heal.
Deep ulceration around the Achilles tendon, less commonly at the elbow, is very characteristic of Werner's syndrome.
Many people have additional skin abnormalities. The skin of the hands and feet produces abnormally increased coloration (hyperpigmentation), decreased coloration (hypopigmentation), or abnormal dilation of blood vessels occurs, causing associated redness (telangiectasias).
The skin of the palms, soles, joints such as elbows and knees becomes unusually thickened (hyperkeratosis) and tends to develop ulcers due to destruction of surface tissues.
Due to atrophic changes in the skin and underlying tissues in the facial area, affected individuals have a characteristic facial appearance:
- noticeable eyes;
- hard ears that have lost their elasticity;
- thin, pinched nose.
Premature graying and hair loss contribute to the characteristic appearance. For most people, premature aging occurs around the age of 30-40.
Eye defects
The disorder is characterized by the premature onset of senile cataracts. It usually affects both eyes (bilateral). Onset suddenly during the third or fourth decade of life (Senile cataracts usually develop in people over 50.)
Progeria is a syndrome of premature aging, manifested by characteristic changes in the skin and internal organs. It is a rare genetic abnormality that can be detected 1 person in 4 million... In the world, there are no more than eighty observed cases of such a disease. The etiopathogenetic factors of progeria are not fully understood.
There are two morphological forms of pathology:
- Progeria for children - Hutchinson-Guildford syndrome,
- Adult progeria - Werner's syndrome.
The term "progeria" in translation from the ancient Greek language means "early aging". The unnatural depletion of all life support systems is due to a genetic failure. At the same time, the aging process is accelerated tenfold.
With Hutchinson-Guildford syndrome in children with a delay in physical development, signs of aging appear: baldness, wrinkles, specific appearance. Their body changes greatly: the structure of the skin is disrupted, there are no secondary sexual characteristics, and internal organs lag behind in development. Then senile ailments develop rapidly: hearing loss, arthrosis-arthritis, atherosclerosis, stroke or heart attack, bone demineralization. An eight-year-old child with this condition looks and feels 80 years old. In mental development, sick children remain absolutely adequate. Their intellectual development is not affected. They rarely live to be 13 years old. Boys suffer from Progeria more often than girls.
an example of the development of a child with childhood progeria (Hutchinson-Guildford syndrome) from 1 to 12 years
Werner's syndrome usually begins to manifest clinically in young people aged 16-20 years. Adult progeria is accelerated aging with damage to all systems and a high risk of developing cancer of various localization. The genomic instability that drives the normal aging process leads to a variety of pathological changes. Such patients die by the age of 30-40, having all the symptoms of extreme old age.
a patient with adult progeria (Werner's syndrome) - before the onset of the disease at 15 years old and with a developed form at 48 years old
Progeria is an incurable disease that “takes” childhood from sick children and “turns” them into real old people. Regular and adequate medical care can slow down the irreversible aging process and reduce the severity of clinical symptoms. For this, medications, food additives, surgical and physiotherapy techniques are used.
Etiology
The main cause of Progeria is a single genetic mutation, the mechanism of formation of which is currently unknown. Some scientists believe that the true cause of the mutation lies in the heredity of the parents, while others - in the exposure of the embryo to radiation during an X-ray of a pregnant woman.
In Werner's syndrome, the process of reproducing DNA molecules is disrupted, and in Hutchinson-Guildford syndrome, the biosynthesis of a protein that determines the shape of cell nuclei. Genetic disturbances make cells unstable, which leads to the triggering of unexpected aging mechanisms. Large amounts of protein accumulate in cells, which stop dividing. In this case, the shell of the nucleus becomes unstable, and the cells of the body become unusable and die off prematurely. The mutation results in the production of a truncated progerin protein, which is unstable and rapidly degraded within the cell. Unlike a whole protein, it is not incorporated into the nuclear plate, which is located under the nuclear membrane and is involved in the organization of chromatin. The nuclear substrate collapses, resulting in serious problems. Progerin accumulates in the cells of the smooth muscles of the vascular wall. Degeneration of these cells is one of the leading manifestations of the disease.
Progeria in adults is inherited in an autosomal recessive manner. In children, the mutation is not inherited, but occurs directly in the patient's body. This is not surprising since carriers die before reproductive age.
Non-genetic factors influencing the development of the disease:
- lifestyle,
- accompanying illnesses,
- climate,
- nutrition,
- the state of the environment,
- excess sun exposure,
- smoking,
- hypovitaminosis,
- psycho-emotional factors.
Symptoms
In children (Hutchinson-Guildford syndrome)
At birth, a sick child appears to be an ordinary baby. Clinical signs of progeria appear already in the first year of life. Some children under 2-3 years of age develop correctly, and then they begin to lag behind their peers in terms of height and weight. Children with progeria have a specific appearance, as the signs of the disease are characteristic and unique. All patients are strikingly similar to each other.
typical children with Hutchinson-Guildford syndrome from different families)
4-year-old boy with less typical Hutchinson-Guildford syndrome
- Sick children have a disproportionate skull with a large cerebral part and a small facial. Their nose resembles a bird's beak: it is thin and pointed. The lower jaw is poorly developed, the chin is shallow, the lips are thin, the ears are protruding, the eyes are unnaturally large. The teeth grow in two rows, they are deflated and begin to fall out early. It is this set of specific traits that make sick children look like old people.
- Skeletal abnormalities are the main symptom of pathology. Sick children are characterized by short stature, underdeveloped collarbones and hips. The bones of patients are very fragile, they often break, the mobility of the joints is limited. Dislocations of the hip are common. Dwarfism becomes a manifestation of the disease. Defects of the skeleton and nails are observed. The nails are yellow and convex, reminiscent of "watch glasses". Sick children begin to sit and walk late, their posture changes. Some are unable to walk without assistance.
- The skin and subcutaneous fat become thinner. Early aging in patients manifests itself in different ways: the skin becomes covered with wrinkles, its turgor decreases, the eyelids swell, the corners of the mouth drop. Dry and wrinkled skin is especially noticeable on the face and limbs. The hair on the head falls out, becomes thin and fluffy, there are no eyelashes and eyebrows. The venous mesh is visible through the thinned scalp. Due to the lack of subcutaneous fat, the child outwardly resembles a skeleton covered with skin. Dry and wrinkled skin atrophies in places, and large areas of hyperpigmentation, thickening and keratinization appear on it.
- Other symptoms: infantilism, shrill voice, muscle wasting, short arms, narrow and bulging chest.
In adults (Werner's syndrome)
The first clinical signs of Werner's syndrome appear by the age of 14-18. Before puberty, patients develop normally. Then they begin to lag behind in physical development from their peers, go bald, turn gray. Their skin becomes thinner, wrinkled, and takes on an unhealthy pallor. The arms and legs look very thin due to atrophy of subcutaneous fat and muscles.
37-year-old man with Werner's syndrome
After 30 years, the following pathological processes develop in the patient's body:
- cataracts in both eyes,
- hoarseness of voice
- calluses on the feet
- ulcerative necrotic processes in the skin,
- dysfunction of sweat and sebaceous glands,
- disruption of the heart,
- osteoporosis, metastatic calcification of soft tissues, osteomyelitis,
- erosive osteoarthritis,
- "Scleroderma mask" on the face,
- short stature, dense and short body, thin and dry limbs,
- decreased intelligence,
- deformation of nails,
- the appearance of large age spots on the skin,
- hump on the back,
- exophthalmos with thyroid dysfunction,
- moon face with pituitary dysfunction,
- testicular atrophy in men, menstrual irregularities in women, early menopause.
The epidermis of the skin is flattened, the connective tissue fibers are sclerosed, the subcutaneous tissue atrophies and is partially replaced by connective tissue. The limitation of passive movements in the joints of the arms and legs is manifested by the impossibility of complete flexion and extension of the limb. This is due to cicatricial contraction of the tendons and pain.
By the age of 40, patients develop senile ailments: heart problems, diabetes mellitus, frequent fractures of the arms and legs, joint pain, benign and malignant skin tumors, dysfunction of the parathyroid glands. Cancer formation, heart attack and stroke, internal hemorrhage are the main causes of death in progeria.
Symptoms of pathology only resemble the process of normal aging. The signs of aging in Progeria vary in severity or appear in a different order. With natural aging, nail growth slows down, and with progeria, it stops completely. In older people, the eyebrows become thinner after hair loss on the head, and in patients with progeria, on the contrary.
Diagnostics
Hutchinson-Guildford syndrome
werner's syndrome
Diagnosis of progeria does not require specific techniques and studies. The external signs of the disease are so eloquent that the diagnosis is made based only on symptoms and visual examination data. Personal and family history is reviewed by specialists.
Additional studies are indicated for the purpose of identifying concomitant diseases. Patients are prescribed a general blood test, its biochemical study, X-ray of the osteoarticular apparatus, histological examination of the skin, medical and genetic counseling.
Treatment
There is currently no panacea for Progeria. All the treatments that have ever been used have proven ineffective. Doctors use modern methods to try to stop the disease and prevent it from getting worse. Patients are jointly treated by specialists in the field of endocrinology, therapy, cardiology.
To alleviate the condition of patients, doctors prescribe:
- "Aspirin" for the prevention of acute heart and vascular failure - heart attack and stroke.
- Statins for lowering blood cholesterol levels and preventing atherosclerosis - "Lipostat", "Holetar", "Liptonorm".
- Anticoagulants to prevent or slow down the process of thrombus formation - "Warfarex", "Sinkumarin".
- Preparations containing growth hormone - "Getropin", "Neotropin", "Dinatrop". They allow you to correct the lag in physical development.
- Medicines that heal wounds and stimulate blood circulation in the formation of ulcers - "Mefanat", "Bepanten".
- Hypoglycemic drugs for diabetes mellitus - "Diabeton", "Maninil", "Glyformin".
Physiotherapy procedures are carried out with the aim of affecting stiff and stiff joints. Patients are prescribed electrophoresis, reflexology, exercise therapy, infrared rays, water procedures, mud therapy, UHF therapy, magnetotherapy. Patients with progeria are shown proper nutrition, enriched with vitamins and trace elements, moderate physical activity, long walks in the fresh air, and good rest.
Babies are fed through a tube with special milk formulas containing additives for gaining body weight. Milk teeth are removed, making room for permanent teeth, which quickly erupt in sick children. Specialists monitor the state of the cardiovascular system, which makes it possible to identify the beginning ailments in time. Surgical treatment is also indicated for patients with early aging syndrome. Using angioplasty or coronary artery bypass grafting, the patency of blood vessels is restored.
Progeria is an incurable pathology, the development of which cannot be stopped. Experimental treatment of adults with stem cells and farnesyltransferase inhibitors makes it possible to restore the subcutaneous fat layer, total weight, and reduce bone fragility. The prognosis of the disease is always unfavorable. Patients die from acute coronary insufficiency or oncopathology. Prevention of progeria is impossible due to the fact that the disease is genetic in nature. Lifelong therapy can only make it easier and prolong the life of patients. Continuous care, cardiac care and physiotherapy are the main directions in the treatment of ailment.
Video: Examples of People with Premature Aging Syndrome
Video: TV Show about People with Progeria
Werner syndrome (BC) (syn.: Adult progeria) is a rare hereditary autosomal recessive connective tissue disease (M1M 272 700). It is manifested by premature aging of the skin, damage to the nervous, endocrine, bone and other systems of the body, as well as an increase in the risk of developing malignant neoplasms of internal organs and skin: sarcomas, melanoma, non-melanotic skin cancers, skin lymphomas, etc. Most often men 20-30 years old. The molecular basis of VS is associated with mutations in the WRN gene encoding DNA helicase. In patients with VS, a decrease in the activity of natural killer cells was noted, which may be the reason for an increase in the frequency of tumors. However, the relationship of VS with other syndromes of premature aging, such as metageria, acrogeria, and progeria, has not been determined.
The first signs of Werner's syndrome can occur at the age of 14-18 years, manifested by stunting, graying, which quickly becomes universal and is sometimes combined with progressive alopecia. Usually, VS develops after 20 years, is accompanied by premature baldness, pallor and thinning of the skin of the extremities and face, which becomes sharply stretched, and a network of superficial blood vessels is clearly traced under it; subcutaneous fatty tissue and underlying muscles undergo atrophy, as a result of which the limbs become disproportionately thin. The skin over the bony protrusions gradually thickens and ulcerates.
In the 3rd decade of Werner's syndrome there are bilateral cataracts, voice changes (weak, hoarse and high), as well as skin lesions: sclerocerm-like changes in the face and limbs, ulcers on the legs, dry skin, calluses in the soles, telangiectasia. Patients acquire a characteristic appearance: short stature, a moon-shaped face with pointed features, a "bird's nose", a sharply protruding chin, narrowing of the mouth opening (the face resembles a "scleroderma mask"), pseudoexophthalmos, a full torso and thin limbs. Atrophy of the sebaceous and sweat glands leads to a decrease in sebum and sweating. On the bony protrusions and distal extremities, foci of hyperkeratosis appear, diffuse hyperpigmentation with areas of hypopigmentation is noted; trophic ulcers form on the feet and legs after injuries, on the soles - keratosis; the nail plates change. In addition to thinning and atrophy of the extremities, musculoskeletal changes, metastatic calcification, generalized osteoporosis, erosive osteoarthritis, limited mobility of the fingers of the hands (resembling sclerodactyly), flexion contractures, soreness of the extremities, flat feet, hand deformities (similar to those in rheumatoid arthritic arthritis) are typical. , osteomyelitis. X-ray examination reveals osteoporosis of the bones of the legs and feet, metastatic heterotopic calcifications of soft tissues (skin, subcutaneous fat, etc.), especially the tendons and ligaments of the knee, elbow and ankle joints and periarticular tissues. Slowly progressive cataracts, premature atherosclerosis with impaired activity of the cardiovascular system are noted. Many patients have reduced intelligence.
In the 4th decade of Werner's syndrome, often against the background of endocrine diseases (diabetes mellitus, hypogonadism, dysfunction of the parathyroid glands, etc.), in 5-10% of patients, malignant neoplasms of internal organs and bones develop (breast cancer, thyroid adenocarcinoma, osteosarcoma, meningioma, astrocytoma, etc.). e), skin cancers. Death usually occurs from cardiovascular disease and malignant neoplasms.
On histological examination of Werner's syndrome they reveal atrophy of the epidermis and skin appendages with preservation of the eccrine glands, the dermis is thickened, collagen fibers are hyalinized, the content of glucoseaminoglycans is increased, nerve fibers and blood vessels are subject to destruction. Subcutaneous adipose tissue and underlying muscles are atrophic.
Diagnosis of Werner's syndrome established on the basis of the clinical picture of the disease. In doubtful cases, the determination of the ability of fibroblasts to reproduce in culture can be used (with VS it is reduced).
Differential diagnosis of Werner's syndrome is performed with progeria children, Rothmund-Thomson syndrome, systemic scleroderma.
Treatment of Werner's syndrome symptomatic, as with all genetic syndromes.
Trichoepithelioma multiple syndrome
Trichoepithelioma multiple syndrome (SMT) is a rare hereditary disease with an autosomal dominant transmission. The genetic basis for this syndrome is unknown.
Clinical syndrome of multiple trichoepithelioma characterized by widespread occurrence of multiple benign tumors on the face, scalp, neck, or upper body. Tumors are usually small (up to 0.5 cm in diameter), dense, domed papules and nodes, and their color varies from white to yellow-brown. Neoplasms are located completely symmetrically at the corners of the eyes, in the nasolabial folds, in the periorbital region.
By histological structure these tumors are trichoepitheliomas, there are often areas similar to trichopholliculomas and basaliomas.
Rapid growth of multiple trichoepithelioma and / or ulceration is indicative of malignant transformation to squamous cell carcinoma. In patients with multiple trichoepithelioma syndrome, the development of basaliomas is also possible.
Differential diagnosis of multiple trichoepithelioma it is performed with adenoma of the sebaceous glands, cylindroma, syringoma, scleroderma-like form of basalioma.
