Elschnig Syndrome: Causes, Symptoms & Treatment

Elschnig syndrome is a very rare hereditary disorder with congenital malformations of the eyelids. However, the severity of symptoms often varies widely. Treatment is symptomatic and depends on the malformations that occur.

What is Elschnig syndrome?

Elschnig syndrome is mainly characterized by malpositions of the lower eyelids. In rarer cases, other symptoms also appear, such as cleft lip and palate, as well as other malformations. Elschnig syndrome was first described in 1912 by the Austrian physician Anton Elschnig. There are several synonyms for the condition such as blepharo-cheilodont syndrome (BCD syndrome), ectropion, inferior – cleft lip and/or palate, lagophthalmos – cleft lip and palate or cleft palate – ectropion – conical teeth. These synonyms already indicate the possible secondary symptoms besides the main symptom ectropion of the eyelids. The disease is very rare and affects only one in a million people. All the features of the disease are present from birth. However, it is not a life-threatening disease.

Causes

The cause of Elschnig syndrome is due to a mutation in the P63 gene. The P63 gene is located on chromosome 3, and the mode of inheritance is autosomal dominant. Two other hereditary diseases with similar manifestations are also caused by mutations on this gene. These are Hay-Wells syndrome and EEC syndrome. In these disorders, the ectodermal defects and cleft lip and palate play a greater role. The P63 gene is responsible for the interactions between epithelium and mesenchyme during embryogenesis. It is one of the transcription factors that ensure the smooth formation of organs (morphogenesis). In the case of mutations of this gene, this task can no longer be carried out perfectly. This leads to a variety of malformations. In Elschnig syndrome, the eyes are mainly affected. Due to the autosomal dominant mode of inheritance, the disease is transmitted directly from the affected parent to the offspring. In this case, there is a 50 percent chance for the children to suffer from this syndrome.

Symptoms, complaints, and signs

Elschnig syndrome is characterized, as already mentioned, mainly by malformations of the eyelids. A lateral elongation of the palpebral fissure with a downward rotation of the lower eyelids is noticeable. This phenomenon is also called ectropion. Ectropion of the lower eyelids is considered the main symptom of Elschnig’s syndrome. In some cases, the ectropion also occurs together with cleft lip and cleft palate. To date, this association has been described in nearly 50 patients. Furthermore, hypertelorism, syndactyly, conical teeth or anus imperforatus is observed. Hypertelorism is characterized by an excessive interocular distance. Syndactyly is a malformation of the phalanges of the fingers or toes, where individual fingers or toes may be fused together. The teeth may also be conically shaped. Anus imperforatus is the name given to a malformation at the anal opening. The eyelids may also be enormously wide open, which is called euryblepharon. A so-called lagophthalmos is also possible. In this case, the eyes cannot be closed. In rarer cases, distichiasis (second row of hair) also occurs on the upper eyelid.

Diagnosis

The suspected diagnosis of Elschnig syndrome is made when appropriate symptoms are present. However, it must be differentially diagnosed from various other disorders such as Greig syndrome, Franceschetti syndrome, Apert syndrome, Goldenhar syndrome, EEC syndrome, Hay-Wells syndrome, or Van der Woude syndrome. Van der Woude syndrome has very strong similarities with Elschnig syndrome. To distinguish between the two disorders, genetic mutations of the genes P63 for Elschnig syndrome and IRF6 for Van der Woude syndrome should be investigated. Both Hay-Wells syndrome and EEC syndrome, like Elschnig syndrome, are caused by a mutation on the P63 gene. However, since different areas of the gene are affected, they are also diseases that can be easily distinguished from each other. In the other diseases, individual symptoms overlap.In addition to genetic analysis, a definitive diagnosis of Elschnig syndrome can be made if there is familial clustering.

Complications

In Elschnig syndrome, the patient mainly suffers from discomfort and malformation of the eyelids. In this case, the eyelids have an unusual shape and length, which can lead to an unusual appearance. This often leads to bullying and teasing, which can occur especially in children. Those affected suffer from reduced self-esteem and feel unattractive. This can also lead to other psychological complaints. In some cases, malformations of the lips also occur, but these are very rare. The teeth can also be affected by malocclusions and an unusual inclination. Furthermore, those affected with Elschnig syndrome suffer from fused fingers or toes. These also lead to the patient not finding himself beautiful. In the worst case, the malformation of the eyelids means that the affected person cannot close his or her eyes completely. This can result in sleep disturbances. A direct treatment of the Elschnig syndrome is not possible. However, the various deformities can be corrected so that the patient is satisfied with his or her appearance. This can also prevent conjunctivitis, which can occur if the eye is not completely closed. The treatment does not lead to any other complications. Life expectancy is not usually reduced by Elschnig syndrome.

When should you see a doctor?

As a rule, a visit to the doctor for Elschnig syndrome depends on the severity of the malformations and deformities. The doctor should be seen whenever the patient’s daily life is significantly complicated by the malformations. In many cases, however, the syndrome is diagnosed before or immediately after birth, so that an additional diagnosis is usually no longer necessary. The visit to the doctor takes place when the patient suffers from complaints of the eyelids. Malformations of the toes or fingers can also indicate Elschnig syndrome. Therefore, if the child experiences discomfort in his or her daily life due to the malformations, a visit to the doctor is necessary. An examination must also take place if the patient is unable to close his or her eyes completely due to the syndrome. Usually, the syndrome can be diagnosed by a pediatrician. Further treatment then takes place through surgical procedures. Because the deformities can also lead to psychological symptoms or depression, a psychologist should also be consulted for Elschnig syndrome.

Treatment and therapy

Elschnig syndrome cannot be treated causally because it is genetic. However, depending on the need, symptomatic therapies can be performed. For example, surgical correction of the ectropia is possible. In the case of the lower eyelid, the edge of the eyelid must be included. Several operations are then often necessary to correctly correct the position of the eyelid. Cleft lip and palate can also be corrected surgically. At the same time, the malpositioning of the teeth is treated. Such an operation should be followed by speech therapy (speech therapy). Euryblepharon (wide eyelid opening) can also be completely eliminated by surgical intervention. This is necessary because euryblepharon may lead to lagophthalmos (eyes that do not close completely)), which can be the cause of constantly recurring conjunctivitis. If hypertelorism, if it occurs, greatly affects the patient, a reduction of the interocular distance can also be achieved in this case by surgical intervention. Correction of syndactyly must be done before the age of three. This prevents further malgrowth and deformity of the ankle or wrist. It may be necessary to create an artificial anus in the case of anus imperforatus. In mild cases of Elschnig syndrome, no surgical intervention is necessary.

Outlook and prognosis

Elschnig syndrome is associated with a number of limb and eye malformations. The prognosis for complete recovery is not given. Even with early treatment, long-term damage usually remains, and vision is usually permanently reduced.In addition, the external abnormalities also cause psychological discomfort, which, in the absence of therapy, can increase and develop into severe depression. If Elschnig syndrome is treated comprehensively, the malformations can be corrected surgically and the damage to the eyes can be repaired. If syndactyly is present, it must be surgically corrected before the age of three. Otherwise, it will persist throughout life and thus represent a permanent impairment for the patient. If the gastrointestinal tract is affected, an artificial anus often has to be inserted, which is also a continuing burden and greatly reduces the quality of life. Affected individuals require close medical monitoring. Life expectancy is not necessarily reduced by the syndrome. However, under certain circumstances, the malformations can lead to further diseases, which ultimately also reduce the patient’s life expectancy.

Prevention

Elschnig syndrome is genetic and is subject to autosomal dominant inheritance. If there is a familial clustering of the disease, human genetic counseling is useful to assess the risk to offspring if children are desired. Genetic testing can also be performed.

Follow-up

In Elschnig syndrome, there are few options for follow-up care available to the affected person. As a rule, the disease cannot be treated completely either, since this syndrome is a hereditary disease. Therefore, only a purely symptomatic and no causal treatment is possible, so that in most cases the affected person is dependent on lifelong treatment. If the patient wishes to have children, genetic testing and counseling can also be performed. Thus, the inheritance of the syndrome to the descendants can possibly be prevented. Most of the symptoms and malformations are treated by the respective specialist and can be alleviated relatively well. Since an operation is usually necessary, the patient should rest and take care of his body after such an operation. Efforts or stressful activities should be avoided in order not to strain and stress the body unnecessarily. Support and help from one’s own family can also be useful and have a positive effect on the course of Elschnig’s syndrome. In this context, it cannot be generally predicted whether the syndrome will reduce the life expectancy of the affected person.

What you can do yourself

Since Elschnig’s syndrome or the associated complaints cannot be cured with one’s own self-healing powers or home remedies, alternative options remain for dealing with the deformity. The patient can distract from the visual blemish of the eyelids in everyday life with accessories and his own fashion style. Wearing glasses with window glass, a hairstyle with long bangs or styling that draws attention to another part of the body would be possible. With a strong self-confidence and confident demeanor, the sufferer is less likely to be a victim of bullying or teasing. A positive outlook on life as well as an open approach to the disease help the patient to a great extent. In addition, relaxation techniques can help to reduce everyday stress. With autogenic training, yoga or meditation, the patient reflects on the things in life that are important to him. An expansion of consciousness takes place, in which a visual blemish recedes into the background. In addition, the patient can be trained to deal with the deformity. In seminars, targeted self-help exercises are carried out and confrontational situations from everyday life are re-enacted. In this way, the patient can optimize and try out his or her own behavior. The focus should be on the person’s strengths. As a result, the disease takes a lower priority in life.