Ectodermal dysplasia is a rare and little-studied genetic disorder, and even an ordinary doctor will not always be able to immediately diagnose the disease and prescribe appropriate treatment. Only geneticists can provide complete information.
The concept of “dysplasia” implies any disorder or abnormal development. It unites all congenital defects in the development of organs and tissues that arise during the process of growth inside the mother.
The ectoderm is the outermost germ layer in the earliest stages of fetal development. At first, the ectoderm consists of one single layer of cells, which subsequently differentiate into individual primordia and subsequently form certain tissues of the human body.
It turns out that ectodermal dysplasia is a genetic disorder in the development of those elements from which teeth, nails, hair, the mucous membrane of the cavity and mouth, as well as sweat and sebaceous glands are then formed.
At the moment, there are many types of ectodermal dysplasia and each type has a specific set of symptoms from mild to severe.
However, the most common are:
- hypohidrotic ectodermal dysplasia
- anhidrotic ectodermal dysplasia
These forms have different sites of localization and symptoms, but are largely similar.
Symptoms and causes
Symptoms of the disease appear already in infancy, and the main ones are the following:
- pale and depleted skin: it becomes wrinkled and dry, very flaky, especially thin around the mouth and eyes, and it may also be slightly darker in these areas
- teeth erupt later than in healthy children, they may be conical in shape, their number is reduced, and in rare cases they may be completely absent, there are large gaps between the teeth
- deteriorated hair condition - hair is thin and fluff-like, very light in color, grows slowly, hair loss is also noted - either permanent or temporary, eyebrows and eyelashes are either short, light, thin or completely absent
- poor condition of nails, they are soft, thin and fragile
- due to the underdevelopment of the sweat glands, sweating is reduced or completely absent, resulting in dryness and possible disruption of thermoregulation, causing overheating of the body, so patients do not tolerate heat well
- due to a disorder in the development of the glands of the mucous membrane, the patient constantly feels dry mouth due to the fact that saliva is secreted sparingly, also dryness in the nasal cavity and suffers from “dry eye” syndrome - since the glands do not secrete fluid, patients cry without tears
- deformation of the ears is possible - they are elongated and slightly pointed upward
- The tongue may be deformed - it is enlarged, folded and dry, and a plaque that is difficult to remove may form on its back
- short stature
- features of the facial structure: large forehead with prominent frontal tubercles, sunken bridge of the nose, sunken cheeks, small nose, full, slightly turned lips
- reduced immunity, due to poor functioning of the mucous membrane, a special tendency to rhinitis, sinusitis, frontal sinusitis and acute respiratory infections
- Delayed mental development and decreased intelligence are possible, but this is not always the case and many people suffering from this disease have normal development
- very sparse or complete absence of hair in the areas under the arms and pubic area
The causes of the disease are quite vague and have not yet been sufficiently studied even in modern medicine, due to the great rarity of the disease.
This is a hereditary disease caused by a genetic disorder during development. It is also known that the anomaly is transmitted recessively through the X chromosome, that is, the carrier most often becomes a woman, and she passes the disease to her child, mostly male.
Diagnostics
Despite the great rarity of the disease, an experienced specialist will certainly be able to make a fairly accurate diagnosis.
Since the symptoms of this disease manifest themselves mainly externally, all the signs can be seen with the naked eye, combining them into a single clinical picture.
To make a diagnosis you will need the following:
- a complete examination of the patient to identify characteristic signs and complete a complete clinical picture
- pass
- take a chest x-ray and an ECG
- carry out genetic tests to identify mutations in the gene
- take a special sweat test
- carry out skin examination to examine the condition of the sweat glands
- examine the structure of a patient's hair under a microscope
- conduct an X-ray of the jaw to determine whether there are tooth buds or they are absent at all
Unfortunately, if a baby has this anomaly during intrauterine development, then it is no longer possible to prevent it. However, fortunately, the presence of ectodermal dysplasia can be determined in the early stages.
It is especially important to carry out the appropriate ones for those who have already had similar incidents among their relatives, as well as when planning a second child, if the first one suffers from this illness.
Ectodermal dysplasia is a rare and complex disease that cannot be cured. However, if you diagnose it in time and treat it “from all fronts,” then the patient can be almost completely relieved of the manifestations of the disease and discomfort, and provided with a normal, fulfilling life.
Amyotrophic lateral sclerosis (ALS)(also known as motor neuron disease, Charcot's disease, in English-speaking countries - Lou Gehrig's disease) is a slowly progressive, incurable degenerative disease of the nervous system of unknown etiology. It is characterized by progressive damage to motor neurons, accompanied by paralysis (paresis) of the limbs and muscle atrophy. At the end of the journey, patients die from failure of the respiratory muscles. Amyotrophic lateral sclerosis should be distinguished from ALS syndrome, which can accompany diseases such as tick-borne encephalitis.
Risk factors
Every year, 1-2 people out of 100,000 develop ALS. Typically, the disease affects people aged 40 to 60 years. From 5 to 10% of patients are carriers of a hereditary form of ALS; A special, endemic form of the disease has been identified on the Pacific island of Guam. The vast majority of cases are not related to heredity and cannot be positively explained by any external factors (previous diseases, injuries, ecology, etc.).
Course of the disease
Early symptoms of the disease: twitching, cramps, muscle numbness, weakness in the limbs, difficulty speaking - are also characteristic of many more common diseases, so diagnosing ALS is difficult - until the disease develops to the stage of muscle atrophy.
Depending on which parts of the body are affected first, they distinguish
- ALS of the extremities (up to three quarters of patients) usually begins with damage to one or both legs. Patients feel awkward when walking, stiff ankles, and stumble. Lesions of the upper extremities are less common, making it difficult to perform normal activities that require flexibility of the fingers or force of the hand.
- Bulbar ALS manifests itself with speech difficulties (the patient speaks “in the nose”, has a nasal sound, has difficulty controlling the volume of speech, and subsequently experiences difficulty swallowing).
In all cases, muscle weakness gradually affects more and more parts of the body (patients with the bulbar form of ALS may not live to see complete paresis of the limbs). Symptoms of ALS include signs of damage to both the lower and upper motor nerves:
- upper motor nerve damage: muscle hypertonicity, hyperreflexia, abnormal Babinski reflex
- damage to the lower motor nerves: muscle weakness and atrophy, cramps, involuntary muscle fasciculations (twitching).
Sooner or later, the patient loses the ability to move independently. The disease does not affect mental abilities, but leads to severe depression in anticipation of a slow death. In the later stages of the disease, the respiratory muscles are affected, patients experience interruptions in breathing, and sooner or later their life can only be supported by artificial ventilation and artificial nutrition. Typically, from the detection of the first signs of ALS to death, it takes from six months to several years. However, the well-known astrophysicist Stephen Hawking (born 1942) is the only known patient with clearly diagnosed ALS (in the 1960s) whose condition stabilized over time.
see also
- Superoxide dismutase 1 is a gene associated with a proportion of cases of the disease.
Died from amyotrophic lateral sclerosis
- English: Full list on English Wikipedia
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See what "Lou Gehrig's disease" is in other dictionaries:
CHARCOAT'S DISEASE- (Charcot-Geoffroy syndrome, Charcot-Kozhevnikov disease; first described by French neurologists J. M. Charcot, 1825–1893, and A. Joffroy, 1844–1908; in Russia described in 1883 by A. Ya. Kozhevnikov; synonyms - Lou Gehrig syndrome, according to named after H. Louis Gehrig... Encyclopedic Dictionary of Psychology and Pedagogy
The style of this article is non-encyclopedic or violates the norms of the Russian language. The article should be corrected according to the stylistic rules of Wikipedia... Wikipedia
Eddie's syndrome- uneven pupils with mydriasis, accompanied by a sharp decrease in light pupillary reactions with a preserved reaction to convergence, but unlike Argill-Robertson syndrome, the reaction to convergence is slow, with a tonic component. The pupils change their size when moving into a dark or, conversely, light room, or instilling medicinal substances. Eddie's syndrome can be congenital and acquired (due to infections, injuries, intoxications). Congenital Edie syndrome is usually associated with loss of Achilles reflexes and does not cause difficulty reading or performing small movements.
Trigeminal nerve
Trigeminal nerve(n. triqeminus) - mixed. Sensitive cells of the trigeminal nerve are located in the Gasserian node, which is located between the layers of the dura mater (cavum triqeminale) in a special depression at the apex of the pyramid of the temporal bone (impression and triqemini). The dendrites of the cells of this node form three branches: orbital (n. ophtalmicus), maxillary (n. maxillaris) and mandibular (n. manilibularis). The axons of sensory cells form the trigeminal nerve root (radix sensoria), which enters the substance of the brain at the point of origin from the bridge of the middle cerebellar peduncle (pedunculus cerebellaris medius). In the substance of the brain, the fibers of the trigeminal nerve take ascending and descending directions. The ascending fibers end on the superior sensory nucleus of the trigeminal nerve (n. sensorius superior n. triqemini). N. sensorius superior is located in the tegmentum of the pons outward and posterior to the motor nucleus of the trigeminal nerve. The first neurons of deep and tactile sensitivity end in it (some of the conductors of tactile sensitivity complete their path in the oral section of the nucleus of the descending fact). The sensory nuclei of the trigeminal nerve include the mesencephalic nucleus, the role of which was determined relatively recently.
It represents ganglion embedded in brain tissue, containing the cells of the first neurons of proprioceptive sensitivity, the dendrites of which take part in the innervation of the masticatory muscles, the temporomandibular joint, and the oculomotor muscles. The mesencephalic nucleus of the trigeminal nerve ascends along the pons and midbrain to the white commissure. The descending fibers of the trigeminal nerve root, which conduct pain and temperature sensitivity, end in the nucleus of the spinal tract of the trigeminal nerve (nucl. tractus spinalis n. triqemini), which occupies a lateral position in the pons and medulla oblongata. In the area of the bridge, it is located medial to the vestibular and cochlear nuclei, at a lower level (in the upper parts of the medulla oblongata) - in the retroolivary zone, intersecting here with fibers of the glossopharyngeal nerve (file radicularia nervi qlossopharinqei).
Somewhat lower is the mutual vagus nerve nucleus(n. ambiquus n. vagi). In the middle section of the medulla oblongata nucl. tratus spinalis nervi triqemini (V pair) is located close to file radicularia n. Vagi. Ends with n. tractus spinalis in the upper cervical segments of the spinal cord in the region of the gelatinous substance. In the descending nucleus of pair V, three subnuclei are distinguished: in the caudal subnucleus, fibers from the lateral parts of the face (outer Zelder area) end, in the medial – from the middle sections (middle Zelder area) and in the rostral subnucleus – fibers from the inner parts of the face (inner Zelder area) .
Axons of second neurons n. tractus spinalis n. triqemini partially end in the cells of the reticular formation. Through them, a connection is established with the cerebellum and other cranial nerves. Some of the fibers of the neurons of this nucleus pass to the opposite side, forming the ventral trigeminal tract, which ends in the nuclei of the thalamus. From here, the axons of the cells of the third neurons are directed to the posterior central gyrus (fields 3,1,2) and the limbic cortex. The connection with the limbic cortex provides the autonomic and emotional component of pain. In this case, pain and temperature sensitivity is carried out contralaterally, tactile sensitivity - bilaterally.
Second neurons from the sensitive trigeminal nucleus partly end on its motor nucleus, partly on the cells of the reticular formation, which ensures connection with VII, IX, XII pairs of the CN. Some of the fibers in the dorsal central trigeminal tract are sent to the ventrolateral nucleus of the thalamus and then through the posterior sections of the internal capsule to the posterior central gyrus (fields 3, 1, 2).
Mesencephalic nucleus connected on the periphery with muscle spindles and receptors embedded in the periodontal ligaments.
Educational video on the anatomy of the trigeminal nerve and its branches
Other video lessons on this topic are:They are gaining great popularity. This is due to poor ecology, heredity, a large number of different infections, and so on. Among these defects is Adie syndrome (Holmes-Adie), which is most often observed in people with damage to the postganglionic fibers of the eye, which occurs due to a bacterial infection. In this case, the eye pupil partially or completely loses the ability to narrow. It takes on an oval shape or becomes uneven, and segmental damage to the iris is observed.
Description
Holmes-Ady syndrome - a disorder of a neurological nature, which is characterized by constant dilation of the pupil, the reaction to light of which is very slow, but a pronounced reaction is observed with bright close dissociation. So, when approaching, the pupil narrows quite slowly or does not narrow at all, and returns even more slowly to its original size, sometimes within three minutes. When staying in the dark for a long time, the patient experiences pupil dilation. Bound Eydie syndrome in neurology with the fact that the bacterial infection contributes to damage to neurons in the cluster of nerve cells that are located in the part of the orbit that is located behind, and control the narrowing of the eye. In addition, people with this disease experience disruption of the body's autonomic control, which is associated with damage to nerve cells in the spinal cord. A person's ankle is twitching and sweating is impaired. The disease happens:
- Congenital, which is characterized by dysfunction of the Achilles reflex, visual impairment when examining an object close up is not observed.
- Acquired, which is caused by visual impairment when viewed closely, which is corrected by instilling miotic agents. Occurs after injuries, infections and poisoning.
Etiology and epidemiology
Adey's syndrome has not been fully studied to date; in some cases it is considered to be a symptom at the stage of development of autonomic failure. Most often, the disease occurs in women aged about thirty-two years. There are known cases of familial disease. National and racial characteristics do not play any role in this.
In most cases, the disease manifests itself unilaterally as mydriasis. This disease is quite rare; some sources indicate one case of pathology per twenty thousand people. These are most often single cases, but sometimes the anomaly can occur in entire families. Children very rarely get this disease. A large number of patients seek help between the ages of twenty and fifty. The origin of the syndrome is unknown; it appears in people who do not have any eye pathologies. In rare cases, the disease occurs due to trauma to the orbit, as well as as a result of metastasis of cancerous tumors into the orbit of the eye.
Causes
Eydie syndrome causes is unclear at present. What is known is that the ciliary ganglion, which is located in the orbit, is affected; this provokes an anomaly in the functioning of the muscles responsible for the ability to clearly see objects at a distance. The ability to see sometimes returns, but the pupil does not react to light. Doctors believe that the main reasons for this pathology are:
vitamin deficiency and infectious diseases;
congenital myotinia;
herpes eyes;
atrophy of the eye muscles, which progresses;
inflammation of the brain or its membranes.
Symptoms
Signs of the disease are three criteria:
- One pupil is pathologically dilated and does not respond to light.
- Loss of tendon reflexes
- Sweating disorder.
Other symptoms of a disease such as Eydie syndrome may manifest themselves in photophobia, farsightedness, decreased vision, headache, and decreased leg reflexes. The size of the pupils may change throughout the day. At first one eye is affected, but after a few years the other eye may also be affected.
The disease manifests itself immediately after a severe attack of headache, then mydriasis begins to develop, vision deteriorates, and blurring appears when looking at objects that are close to each other. In most cases, loss of tendon reflexes and hyperthermia are observed.
Eydie syndrome: diagnosis
Diagnosis is possible using a slit lamp. A test is also carried out using Pilocarpine, a solution of which is instilled into the eyes and the pupils are observed for the next twenty-five minutes. In this case, the healthy eye does not show any reaction; in the affected eye, the pupil narrows. MRI and CT examinations are often performed. The ciliary nerves may become inflamed in the presence of diphtheria, especially in the third week of the disease. Then the pupils are restored. Eydie's syndrome is very similar to A. Robertson's syndrome, which is characteristic of neurosyphilis, so diagnostic measures are carried out to make an accurate diagnosis.
If a pathology of the pupil is observed, and the causes are unknown, an examination is performed using a slit lamp to exclude mechanical injuries to the iris, the presence of a foreign body, injury, inflammation, as well as adhesions, and glaucoma.
Treatment
Usually with an illness such as Eydie syndrome, treatment not developed. The therapy does not have the desired effect. Patients are prescribed glasses that correct disorders. Pilocarpine drops are also prescribed to correct an eye defect. Sweating disorders are treated using thoracic sympathectomy. This disease cannot be completely cured.
Prognosis and prevention
All pathological changes in a disease such as Eydie syndrome are irreversible, so the prognosis is somewhat unfavorable. But the disease is not life-threatening and does not affect a person’s ability to work. But in some cases, the disappearance of tendon reflexes can develop even further over time. Then both pupils are affected, become small in size and practically do not react to light. Treatment with Pilocarpine drops does not bring obvious results.
Preventive measures are aimed at timely treatment of infectious diseases, which often lead to complications. It is necessary to eat right and follow a daily routine. A healthy lifestyle helps reduce the risk of developing various pathological conditions in the human body.
Thus, this disease is incurable, only a decrease in the manifestation of symptoms is possible; over time, the disease can progress and lead to bilateral eye anomalies. But the disease is not life-threatening, since no deaths have been observed with this disease.
Eydie-Holmes syndrome (Eydie syndrome) is characterized by paralysis of the eye muscles, in which the ability of the pupil to respond normally to a light stimulus is completely lost. As a rule, Eydie syndrome manifests itself as unilateral mydriasis.
Women are susceptible to Eydie-Homes syndrome much more often than men. As a rule, it is observed in middle-aged people. There are often family cases.
Signs of the disease
A distinctive feature of Eydie syndrome is a decrease, and sometimes complete disappearance, of the pupil's ability to constrict in response to light. At the same time, the size of the pupils becomes different, with dilation and deformation of the affected pupil. With convergence (reduction of the visual axes to the center to view nearby objects), the affected pupil very slowly narrows and immediately expands when convergence stops. This effect is called pupillotonia. Vision in Eydie-Homes syndrome is also reduced.
Often this condition occurs after a severe attack of headache. At the beginning of the disease, the size of the pupil is very large, although over time it may become smaller. It is not uncommon for the pupil size to change throughout the day.
As a rule, Eydie's syndrome initially affects only one eye. However, there is a high probability of damage to the second eye over the next few years.
Often, Eydie-Homes syndrome is accompanied by impaired reflexes of the lower extremities.
Causes
The disease is characterized by damage to the cell bodies of the ciliary ganglion, localized in the orbit, and postganglionic fibers. As a result, there is a disruption of the innervation of the ciliary muscle, as well as the sphincter of the iris, which leads to paralysis of accommodation (with loss of the ability to clearly see objects at different distances) and the inability to constrict the pupil.
True, over time, the ability to accommodate sometimes returns, but the ability of the pupil to react to light is completely lost.
The exact cause of the disease is not clear to this day, just as the exact moment of development of the disease is not clear. Among the factors leading to the occurrence of Eydie-Homes syndrome, experts call vitamin deficiency, as well as infectious diseases. A similar condition was observed in diabetes mellitus, segmental hypohidrosis, Shy-Drager syndrome, amyloidosis, and diphtheria.
Diagnosis of Eydie-Homes syndrome
A diagnosis of Eydie-Holmes syndrome can be made by examining the eye using a slit lamp and performing a test with Pilocarpine. Performing this test involves instilling a pre-diluted solution of Pilocarpine (at a rate of 1:10) into both eyes, with further observation of the reaction of the pupils for 25 minutes. At this dilution, the Pilocarpine solution has no effect on a healthy eye, but a constriction of the pupil may be observed on the affected eye. In Eydie syndrome, the tonic pupil narrows due to the high sensitivity of the denervated sphincter to Pilocarpine.
Differential diagnosis of Eydie-Homes syndrome is carried out with Argyll Robertson syndrome, characteristic of neurosyphilis.
Prognosis and treatment
The prognosis of the disease is unfavorable due to the fact that such pathological changes of a functional and neuromuscular nature are irreversible.
To date, no specific treatment regimen for Eydie-Homes syndrome has been developed. Symptomatic therapy, in most cases, does not have the desired effect. In order to correct the cosmetic defect of a dilated pupil at least to some extent, the use of Pilocarpine is indicated.
At the Moscow Eye Clinic medical center, everyone can undergo an examination using the most modern diagnostic equipment, and based on the results, receive advice from a highly qualified specialist. We are open seven days a week and work daily from 9 a.m. to 9 p.m. Our specialists will help identify the cause of vision loss and provide competent treatment for identified pathologies. Experienced refractive surgeons, detailed diagnostics and examination, as well as the extensive professional experience of our specialists allow us to ensure the most favorable result for the patient.
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