Eddie syndrome symptoms. Ectodermal dysplasia - the main signs of a genetic disease

Ectodermal dysplasia (Eddy syndrome) is a poorly understood and rare genetic disease; an ordinary doctor cannot always immediately diagnose this disease and prescribe suitable and appropriate treatment. Only geneticists specializing in this field can provide complete information about this disease.

Ectodermal dysplasia (Eddie syndrome): what is it?

The definition of “dysplasia” implies abnormal development and any disorder. It combines all congenital pathologies in the development of tissues and organs that appear during growth in the womb.

The ectoderm is the outer layer of the fetal embryo in the earliest stages of intrauterine development. Initially, the ectoderm consists of one single layer of cells, which subsequently differentiate into various rudiments and subsequently form certain tissues of the human body.

It turns out that ectodermal dysplasia is a genetic disorder of the development of those parts of the body from which nails, teeth, mucous membranes of the mouth and cavity, hair, as well as sebaceous and sweat glands are formed. Today, there are many types of ectodermal dysplasia, and each type of the disease has a specific set of symptoms ranging from minor to very serious. But the most common are:

anhydrotic ectodermal dysplasia;
hypohidrotic ectodermal dysplasia.

These forms have different localization sites and symptoms, but in many ways these syndromes are significantly similar to each other.

Causes and symptoms of Eddy syndrome

Symptoms of the disease appear in infancy:

All these symptoms begin to appear in infancy and develop over time throughout a person’s life, forming full-fledged clinical symptoms by puberty.

Most often, men are affected by this disease, but women with this syndrome are quite rare and all symptoms are expressed much easier, except for problems with the functioning of the mammary glands.

The causes of the disease are quite vague and have not yet been fully studied even by modern science, due to the great rarity of this syndrome.

This is a hereditary disease that is caused by a genetic disorder during the formation of the fetus. It has also been proven that the pathology is recessively transmitted via the X chromosome, so, as a rule, the carrier is a woman who passes the disease to her child, most often a male.

Since the signs of this disease are expressed mainly in appearance, all the symptoms can be observed even with the naked eye, adding them into an overall clinical picture.

To establish a diagnosis, the following is necessary:

Based on external symptoms and laboratory tests performed, the doctor can accurately determine the disease and its form, as well as suggest subsequent actions to combat this disease.

Treatment of Eddy syndrome

Even modern medicine, unfortunately, is currently unable to cope with this congenital disease, therefore it is impossible to completely cure this syndrome. A person who was born with this disease will have to spend his whole life with it, and all that doctors can do is only to minimize some of the symptoms and reduce as much as possible the discomfort that they create for the person. It is for this reason that most often treatment is aimed at eliminating symptoms that appear in this disease.

It is very important to diagnose Eddy syndrome at an early stage and immediately begin treatment in order to prevent the child from developing complexes that can lead to mental disorders.

The treatment is quite complex and requires consultation from specialists in various fields. This syndrome is also complicated by the fact that the small patient is constantly growing, so it is very important to take into account his age and many other factors.

Since a person has only a small part of his teeth or they are missing completely, removable dentures are made for the patient, which are placed on the lower and upper jaws. This is required for aesthetics and normal nutrition of the patient. After a certain time, they will most likely need to be replaced, since as the child grows, his jaw begins to develop, and the dentures may be small.

Subsequently, dental implantation can be performed, a process which, however, can sometimes be complicated by impaired formation of the alveolar ridge. Therefore, the operation will require preliminary bone grafting for further successful installation of implants. Thanks to careful planning of the work and professional performance of the operation by the surgeon, implantation can significantly improve the appearance and raise the patient’s self-esteem.

Orthopedic treatment is carried out, which can help correct the size of the lower jaw, thereby improving the person’s appearance and normalizing chewing function. Oral and maxillofacial surgical adjustments are also likely to be performed.

When the functioning of the sweat glands is impaired, it is constantly necessary to carefully monitor the body temperature and avoid excessive heating.

Since people with this syndrome cannot tolerate heat very well, they need to live in a more humid and cooler climate. Due to the lack of sweating, the mucous membranes and skin of the body constantly need irrigation, which must be done regularly. The mucous membrane of the eye also suffers from a lack of tear fluid, so a person needs to use special eye drops that can help fight dryness and prevent the occurrence of eye diseases.

Since human skin with this syndrome is dry and flaky, it requires constant hydration. For this, special moisturizing creams and products are used. Weakened and soft nail plates must be trimmed short and treated with various cosmetic preparations that can give a positive result. But cosmetic preparations are unlikely to be able to cope with weakened “fluffy”, thin, poorly growing hair; specialized medications will have to be used.

Ectodermal dysplasia is very often accompanied by a weakened immune system, so it is necessary to closely monitor the child’s health and take all kinds of measures to strengthen his immunity.

A person must eat a balanced, healthy diet. All the required vitamins and microelements should be added to his daily menu, which will not only help him develop normally, but also reduce the manifestation of various symptoms. A strong immune system will prevent complications and other diseases from occurring.

Prevention of Eddy syndrome

When a child develops this anomaly during intrauterine development, unfortunately, it cannot be prevented. But fortunately, the development of ectodermal dysplasia can be detected in the early stages of pregnancy.

Appropriate examinations especially need to be carried out for those people who have already had similar incidents among their relatives, as well as when planning a second child, when the first one already suffers from this syndrome.

Ectodermal dysplasia is a rather complex and rare disease that currently cannot be cured. But if this disease is diagnosed in a timely manner and treated “from all fronts”, then a person can be almost completely relieved of discomfort and manifestations of the disease, and provided with a full and normal life.

A film by Dexter Fletcher has been released in Belarus - a film adaptation of a real story about one of the most famous losers and at the same time sports heroes.

Eddie Edwards is a chronic loser who once decided at all costs to compete at the Winter Olympics as a ski jumper, having virtually no training. Having overcome all difficulties, Edwards finally got to the games in 1988 and, as expected, took last place. Despite this, the clumsy guy with glasses and a funny mustache became the favorite of all fans and almost a national hero.

The creators of Eddie the Eagle make no secret of the fact that their film is only partially based on the beautiful story of Eddie Edwards' downfall. After watching the film and studying the real information in detail, we tried to figure out what from the film actually happened and what was made up for the sake of greater drama.

Is Hugh Jackman's character based on a real person?

No. The biography of Eddie Edwards never mentions ski jumper Bronson Pirie (Hugh Jackman), who was kicked out of the team and later became Eddie's coach. This character is mostly fictional. The film says that Peary was a promising athlete until he became addicted to alcohol. In reality, Eddie Edwards learned ski jumping in Lake Placid under the tutelage of two Americans, John Wiscombe and Chuck Berghorm. The film's screenwriter Sean McAuley said that Jackman's character was inspired by the stories of Eddie's trainers, but there is no direct connection between them and Bronson Pirie.

Is it true that Eddie Edwards had no experience in ski jumping?

No. The real Eddie was a much more experienced ski jumper than the guy we saw in the film. Edwards actually worked as a plasterer, but for some time he was interested in stunt jumping over cars and buses. In addition, he had extensive experience in alpine skiing, so at first he wanted to compete at the Olympics in this sport. By 1986, Eddie was practically broke, so he was desperately looking for a new type of activity. “I had no money at all, so I had to choose a sport that did not require expenses,” Eddie said in an interview. “I drove past the jumps in Lake Placid and thought: this looks good.” In the film, Eddie (played by Taron Egerton) was inspired to become a ski jumper by a poster hanging on the wall in his room.

Did Eddie really almost become disabled as a child?

Not really. Eddie was always a fearless child and constantly paid for his bravery. At the age of ten, he played on the football team as a goalkeeper and his hard playing style led to serious damage to his knee joint. As a result, he had to wear a cast for three whole years. Then Eddie began to learn to ski and joined the British national team at the age of thirteen.

Was the real Eddie an only child?

No. The real Eddie Edwards has a younger sister, Lisa. In 2007, Eddie saved her life by donating the bone marrow that the girl needed for a donor transplant.

Is it true that Eddie lived in a mental hospital for some time?

Yes. Although this was not shown in the film, the real story of the athlete does mention the fact that, in order to save money, he checked into a ward in a Finnish mental hospital. While there, Eddie learned that he had qualified for the British Olympic team. His haters later joked that his home suited him perfectly.

To earn some money, Eddie constantly took part-time jobs as a gardener, nanny, hotel porter and even a cook. The athlete drove his mother’s car, wore a helmet given to him by the Italians, and took skis from the Austrian team (in the film, Hugh Jackman’s character robbed a lost and found office to find equipment for Eddie). He wore six pairs of socks to keep his oversized ski boots on his feet. One day Eddie broke his jaw and instead of going to the hospital, he tied it with a pillowcase and continued to do his business.

Where did the nickname "Eddie the Eagle" come from?

When Eddie arrived at the Calgary Olympics in 1988, fans at the airport greeted him with signs that read, "Welcome to Calgary, Eddie the Eagle." This inscription was caught on Canadian television, so the nickname quickly became popular among the people. At the same time, the name Eddie appeared: in fact, the ski jumper’s name is Michael Edwards.

Was Eddie really as clumsy as he is portrayed in the film?

Yes. One of the funny incidents happened when he tried to go out to the fans greeting him in Calgary. “I walked towards the posters, but didn’t notice the glass door and crashed into it as hard as I could, breaking my skis,” Eddie said.

Is it true that Edwards only placed last in all competitions?

Yes. Eddie the Eagle finished last in all three jumps at the Calgary Olympics, but managed to break his own record. But more importantly, he completed the competition without a single injury, which can already be considered a success. “You all won our hearts. Some of you flew like eagles,” said games organizer Frank King at the closing ceremony.

Despite his defeats, was Eddie really a favorite of the public and the press?

Yes. This moment in the film is shown most accurately in comparison with the real story. Despite Eddie's lack of athletic talent, many Olympic spectators expressed sincere sympathy for him, because they saw him not as some kind of superhero, but as an ordinary British boy, just like the rest of them. “I think that I have become a kind of symbol of the sports spirit - a simple amateur guy made it to the Olympics only thanks to his sincere love for sports,” Eddie said. As in the film, this caused outrage in the circles of professional Olympians who devoted almost their entire lives to their sport. They believed that Edwards was unworthy of competing at this level.

How was Eddie Edwards' life after the Olympics?

After performing at the games in 1988, Eddie received invitations to various television shows, including the popular The Tonight Show with Johnny Carson. According to Eddie, thanks to contracts for these performances alone, he earned about 600,000 pounds sterling in a year. A plasterer by trade, Edwards returned to construction work for a while, but then there was a boom in motivational seminars and the former ski jumper also began making a living from it. He eventually sold the film rights to his life story. Eddie Edwards has long become part of British folklore as the heroic underdog who never gave up on his dreams.

The film "Eddie the Eagle" can be seen in all Minsk cinemas until April 20.

Anton Kolyago,ByCard

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.

Adi's syndrome, or tonic pupil, is a consequence of partial denervation of the sphincter of the pupil at the level of the ciliary ganglion (postganglionic neuron). Since pupil contraction is impaired, anisocoria is more pronounced when illuminated. The syndrome is observed as usual. at a young age, more often in women. In a typical case, the patient notices a sudden development of pupil dilation and the inability to focus the eye at close range. When examined with a slit lamp, “worm-shaped” contractions of the pupil (contraction of small sectors of it). Such partial contraction is especially clearly visible during transillumination and simultaneous monitoring in infrared light (using a special camera).

The classic pharmacological test for confirmation is instillation of a diluted solution of pilocarpine (0.1% or 0.125%). In Adi syndrome, the pupil should constrict, whereas a normal pupil does not react at all. This reaction is a consequence of sphincter hypersensitivity during denervation. It should be taken into account that hypersensitivity develops approximately 2 weeks after denervation. The diagnostic value of this test is not very high, since with denervation of the preganglionic neuron (oculomotor nerve palsy), contraction of the sphincter can also be observed when diluted pilocarpine is instilled. Instillation of a 1% solution of prilocarpine allows you to exclude drug-induced mydriasis - with drug-induced mydriasis the pupil will not narrow.

After about 2 months, the innervation of the sphincter begins to recover. However, since the number of fibers innervating the ciliary muscle significantly exceeds the number of fibers going to the sphincter (ratio 30:1), the restoration of innervation is inaccurate (abrupt regeneration): the fibers that originally innervated the ciliary muscle begin to innervate the sphincter of the pupil. Hence the characteristic dissociation of the pupil's reaction to light and near (when focusing at a close distance, the pupil contracts more strongly). At the same time, pupil dilation after contraction in Adi syndrome is slow. This may result in anisocoria with a smaller pupil on the affected side. With long-term Adi syndrome, the affected pupil may be permanently narrower (the so-called “small, old” Adi pupil). The presence of a pupil reaction to near distinguishes Adi's syndrome from oculomotor nerve palsy.

Damage to the ciliary ganglion can be the result of infection (eg, herpes virus) or trauma, but most cases of Adi syndrome are idiopathic. 70% of patients with Adie syndrome have impaired tendon reflexes (Holme-Adie syndrome).

Eddie's syndrome(Holmes-Adie syndrome) is one of the forms of pathological anisocoria that occurs as a result of damage to the parasympathetic innervation at the level of the ciliary node or short ciliary nerves (the ciliary node is depleted of nerve elements; degenerative changes are detected not only in the ciliary node, but also in the spinal ganglia). With this syndrome, a state of persistent long-term anisocoria is determined, which is characterized by the dilation of one of the pupils with the absence or reduction of its reaction to light and to accommodation (when installed at a close distance) - the so-called “tonic pupil”; weakening of tendon reflexes and general autonomic dysfunction.

Pupillary disorders in this pathology are usually unilateral (in 80% of cases), very rarely they can be bilateral (in this case, as a rule, the process develops sequentially - first in one eye, then, during the first decade of the disease, in the other) and do not depend on the color of the iris.

REFERENCE INFORMATION. The ciliary (ciliary) node, ganglion ciliare, is located in the thickness of the fatty tissue surrounding the eyeball, on the lateral surface of the optic nerve between it and the lateral rectus muscle. It is located at a distance of 12 - 20 mm from the posterior pole of the eyeball and within 26 - 40 mm from the lower-outer corner of the orbit. It has an elongated shape, slightly flattened. This node is connected to the first branch of the trigeminal nerve. Three roots are involved in the formation of this ganglion: 1) the nasociliary root, radix nasociliaris (sensitive), from the optic nerve; 2) oculomotor root, radix oculomotoria (parasympathetic), from the oculomotor nerve; 3) sympathetic root, radix sympathicus, from the internal carotid plexus. In addition, there is a branch from the nasociliary nerve. Short ciliary nerves, nn, emerge from the anterior edge of the ciliary ganglion. ciliares breves, numbering 15 - 20. They are directed forward, to the back surface of the eyeball and run parallel to the optic nerve. Here they connect with the long ciliary nerves extending from the nasociliary nerve, and together with them they pierce the tunica albuginea, penetrating between it and the choroid. Long and short ciliary nerves innervate the structures of the eyeball (sclera, retina, iris, cornea) and the muscle that lifts the upper eyelid, while parasympathetic fibers innervate the ciliary muscle and sphincter of the pupil, and sympathetic fibers from the internal carotid plexus approach the pupillary dilator.

Eddie's syndrome is a fairly rare pathology, but in the literature information about its prevalence varies: from 4.7 cases per 100 thousand population to 1 case per 20 thousand population. Basically, these are sporadic cases, but sometimes the disease can be familial. The age period of manifestation of the disease is characteristic. Cases of the disease are rare in children. Among the majority of patients who first consult a doctor with a characteristic condition, their age ranges from 20 to 50 years. Although Edie syndrome is observed in individuals of both sexes, there is a clear advantage of occurrence (about 70%) in women. However, the age at which the disease manifests itself does not differ between men and women.

Etiology Eddie's syndrome is unknown. This syndrome usually occurs in patients who do not have any manifestations of eye or orbital pathology. Rare cases (or suspicions of a tonic pupil) have been described with orbital trauma, intense panretinal coagulation, giant cell arteritis, relapse of herpes simplex or herpes zoster, orbital metastasis with a malignant process in the chest.

Clinic. Patients come to the doctor with complaints of photophobia (increased sensitivity to light), difficulty reading at close range, persistently dilated pupils, and headaches with prolonged visual stress. After some time, the dilated pupil becomes smaller, and accommodation improves somewhat. While maintaining high distance vision, patients experience significant difficulties in conditions of visual load, alternating between distance and near.

First - segmentation or complete lack of reaction to light, accommodation and convergence. The examination reveals a persistent unilateral dilation of the pupil, which in 90% of patients may have an oval or uneven shape, with a characteristic segmental lesion of the iris. With local illumination, healthy or weakly affected areas of the iris contract, leading to so-called “worm-like” movements of these segments under the influence of light. As a result, the pupil contracts slowly, after a long latent period, or there may be no pupil contraction at all. This phenomenon can also persist during mental agitation and hippus. Eddie's syndrome is also characterized by segmentation or slow “tonic” contraction of the pupil, or the absence of such contraction during accommodation and convergence when working at close range.

Second diagnostic sign of Edie syndrome- disturbance or paresis of accommodation (including astigmatism in almost half of the patients), which many authors explain by segmental paralysis of the ciliary muscle. When reading, many patients complain of pain in the area of the brow ridge. Often, a violation of accommodation is also noted in the second eye, where a tonic pupil has not yet been registered ([ !!! ] Among the ophthalmological manifestations, a decrease in the sensitivity of the cornea was also noted, there are reports of glaucomatous cyclic crises).

Third diagnostic sign of Edie syndrome- weakening of tendon reflexes. Areflexia, according to W. Mak, R. T. Cheung (2000), is caused by a violation of the synaptic transmission of nerve impulses in the spinal pathways.

A characteristic, and in some cases, decisive diagnostic sign of Eddy syndrome is pupil hypersensitivity to cholinergic drugs, in particular to pilocarpine (0.1%). When the latter is instilled, the size of the normal pupil does not change, but the tonic pupil narrows.

In dynamics the condition of patients, as a rule, does not noticeably improve: the pupillary reaction is not restored, and, as mentioned above, sometimes damage to the paired pupil occurs, however, the state of accommodation may improve, the pupil narrows over time. Treatment with pilocarpine does not lead to positive results. Tendon reflexes become more sluggish.

used materials from the articles: “Anisocoria in Holmes-Adie syndrome” Bushueva N.N., Khramenko N.I., Boychuk I.M., Shakir M.Kh. Duhair, State Institution “Institute of Eye Diseases and Tissue Therapy named after. V.P. Filatov NAMS of Ukraine", Odessa (magazine "Zalal pathology and pathological physiology" No. 3, 2010); “Functional state of the visual analyzer in Eddy syndrome” V.S. Ponomarchuk, N.N. Bushueva, N.I. Khramenko, V.B. Reshetnyak, State Institution “Institute of Eye Diseases and Tissue Therapy named after. V.P. Filatov NAMS of Ukraine", Odessa (Ophthalmological Journal, No. 6, 2012)