Keratitis-ichthyosis Deafness Syndrome: Causes, Symptoms & Treatment

Keratitis-ichthyosis-deafness syndrome is a disease that is passed on genetically to offspring. Keratitis-ichthyosis-deafness syndrome is comparatively rare. The common abbreviation for the disease term is KID syndrome. Keratitis-ichthyosis-deafness syndrome is primarily characterized by impaired keratinization of the skin, hearing loss, and an inflamed cornea.

What is keratitis-ichthyosis-deafness syndrome?

Keratitis-ichthyosis-deafness syndrome is synonymously referred to as erythrokeratoderma progressiva Burns. In the course of the disease, typical cornifications form in the area of the skin. In addition, the skin is affected by specific redness. These two symptoms are also called erythrokeratoderma in the medical field. In addition, people suffering from keratitis-ichthyosis deafness syndrome suffer from a so-called sensorineural hearing loss. In addition, as a result of the disease, the cornea becomes inflamed, with characteristic scarring forming. This phenomenon is called by medical term vascularizing keratitis. Basically, the keratitis-ichthyosis-deafness syndrome is a hereditary disease. Observations strengthen the suggestion that the disease is inherited either autosomal recessively or autosomal dominantly to the children of affected patients. However, in numerous individuals suffering from keratitis-ichthyosis-deafness syndrome, a new mutation occurs. The disease was first described in 1915 by a dermatologist named Burns.

Causes

Keratitis-ichthyosis-deafness syndrome is characterized by genetic causes. Thus, the development of the disease is mainly due to a so-called point mutation. This genetic mutation occurs on the 13th chromosome. Often several genes are included by the mutations. Both an autosomal-dominant and an autosomal-recessive mode of inheritance of keratitis-ichthyosis-deafness syndrome is possible. In addition, in numerous cases, the disease results from new mutations.

Symptoms, complaints, and signs

Keratitis-ichthyosis deafness syndrome is manifested by a variety of disease symptoms. Changes in the cornea of affected individuals are particularly typical. As a result, the cornea becomes cloudy, making the patients light-shy. In addition, the cloudy cornea usually reduces visual acuity. The second field of complaints includes the skin symptoms of keratitis-ichthyosis-deafness syndrome. Here, the main symptoms are disorders of keratinization as well as reddened skin areas, rashes on the skin, and hives. The hair of the eyelashes and eyebrows either grows very sparsely or is completely absent. The hair on the head is also often sparse. Those suffering from keratitis-ichthyosis-deafness syndrome tend to be bald. The nails on fingers and toes are usually unusually thick and sometimes hypoplastic. In addition, affected individuals sweat more than a healthy person. Other possible malformations affect the mucosa of the gums and tongue as well as that of the mouth as a whole. The central nervous system may also be affected by the malformations as part of keratitis-ichthyosis-deafness syndrome. For example, agenesis in the cerebellum is possible, with reduced reflexes in some cases. Some patients with keratitis-ichthyosis deafness syndrome suffer from paralysis of the hemiparesis. Short stature and cryptorchidism are also typical, as is an association with Hirschsprung’s disease.

Diagnosis and course of the disease

Individuals affected with keratitis-ichthyosis-deafness syndrome suffer from the disease from birth. However, some symptoms develop over time and become more apparent with age. If caregivers suspect that their children have keratitis-ichthyosis-deafness syndrome, the pediatrician should be consulted as soon as possible. It is also possible that the first symptoms are detected by chance during check-ups. First, the attending physician takes an initial history, with the minor suffering from keratitis-ichthyosis-deafness syndrome and his or her guardians present. The presenting complaints are analyzed and the time of first onset is discussed. The pediatrician usually refers the patient to a specialist.There, various examination methods are used to diagnose keratitis-ichthyosis-deafness syndrome. In the first step, a so-called visual diagnosis is made, during which the physician analyzes the externally visible signs of keratitis-ichthyosis-deafness syndrome. After that, other clinical methods of examination are applied. For example, the patient’s blood is subjected to numerous laboratory analyses so that clues to the disease may be found. X-ray examinations provide evidence of a present short stature, which is already indicated in childhood. Keratitis-ichthyosis-deafness syndrome can be diagnosed with a relatively high degree of certainty using a genetic test. In addition to the characteristic combination of disease symptoms, genetic testing is considered a reliable means of diagnosis.

Complications

As a result of keratitis-ichthyosis-deafness syndrome, affected individuals suffer from various symptoms and complications. First and foremost, deafness occurs with this syndrome. This does not have to occur immediately after birth, but can develop during life. The deafness significantly restricts the lives and everyday activities of those affected. Likewise, various malformations occur in the oral cavity, so that the patients are dependent on various treatments from a dentist. Likewise, increased sweating occurs, which significantly reduces the patient’s quality of life. On the skin, it is not uncommon for rashes or itching to occur. Likewise, many patients suffer from a strongly pronounced short stature. Baldness may also develop on the head, and it is not uncommon for patients to lack eyelashes or eyebrows. These symptoms of keratitis-ichthyosis-deafness syndrome can also lead to bullying or teasing in children. However, mental development is not impaired. There is no causal treatment for keratitis-ichthyosis deafness syndrome. However, the symptoms can be treated relatively well, so the patient’s life expectancy is not reduced by the syndrome.

When should you see a doctor?

Sufferers of keratitis-ichthyosis deafness syndrome show abnormalities of the eyes, hearing, as well as skin appearance. If hearing loss is noticed in a newborn, a follow-up visit by a physician is necessary. If a significant reduction in hearing develops in the course of life, medical examinations should also be initiated. In case of malformations in the area of the mouth, a strong sweating or the loss of the hair on the head, there is reason for concern. Sparsely developed eyelashes, eyebrows or hair on the head are considered unusual. A visit to the doctor is necessary to determine the cause. If a change in the cornea or clouding of the lens is noticed, a doctor must be consulted. In case of sensitivity to normal light, consultation of a doctor is recommended, as this is a warning sign of the organism. If there are peculiarities of the skin appearance, a doctor is also needed. In case of itching and open sores, rashes as well as reddening of the skin, there is a disease that needs to be examined and treated. Without adequate medical care, other pathogens can enter the organism and cause additional diseases. People who exhibit short stature, show neurological abnormalities, or suffer hemiplegia require a comprehensive medical examination. If there are changes in the tongue or mucous membranes in the mouth and throat, a visit to the doctor is advised.

Treatment and therapy

Basically, according to the current state of medical science, it is not yet practical to treat keratitis-ichthyosis deafness syndrome causally. This is because it is a genetically caused disease. Instead, symptomatic treatment of keratitis-ichthyosis deafness syndrome is possible, so that the quality of life of affected individuals is improved. For example, the discomfort of the skin can be alleviated with appropriate medications. The changes in the cornea are also checked regularly by a doctor in order to stop the increasing deterioration of the condition if possible. The short stature may be treated with the administration of growth hormones. The goal of treatment is also to allow patients with keratitis-ichthyosis-deafness syndrome to live as self-determined a life as possible.

Outlook and prognosis

The prognosis of keratitis-ichthyosis deafness syndrome is unfavorable. The patient suffers from a genetic disease that is not curable according to current medical knowledge. Scientists and researchers are prohibited from altering the genetics of human beings due to the current legal situation. Therefore, the cause of the genetic disposition can neither be corrected nor remedied. Therapy is only possible by taking care of the symptoms. Since the patient suffers from hearing impairment, medical professionals have few options for adequate treatment. Disorders of growth can be improved in some affected individuals by the administration of hormonal preparations. However, the therapy is associated with risks and side effects and can be applied only during the development and growth process of the patient. In an adult human, the administration of hormones does not result in any changes in physical size. In addition, the disease threatens various consequential damages due to the existing health impairments. In addition to an increased risk of accidents and injuries, the affected person is exposed to strong emotional stress. Restructuring in coping with everyday circumstances and adaptation to the patient’s possibilities are necessary in order to optimize the quality of life. In the case of an unfavorable course of the disease, there is a threat of mental illness. These must be taken into account when making an overall prognosis.

Prevention

Due to the genetic causes of keratitis-ichthyosis-deafness syndrome, there are currently no proven and effective measures to prevent the disease. What is significant is adequate treatment and care for individuals affected by keratitis-ichthyosis-deafness syndrome.

Follow-up

In most cases, the options for follow-up care in keratitis-ichthyosis-deafness syndrome are severely limited or not available at all to affected individuals. Therefore, the first and foremost priority in this disease must be a rapid and, above all, an early diagnosis to prevent further complications or to prevent further worsening of the symptoms. As a rule, self-healing cannot occur, so that those affected should ideally see a doctor at the first signs and symptoms of the disease. If there is a desire to have children, the patient should have genetic testing and counseling to prevent the syndrome from recurring in the children. Since the syndrome significantly increases the likelihood of tumors, regular examinations and checkups by a physician are necessary. Often the support of the affected person by the parents or other relatives is also necessary. In this way, psychological complaints or depression can also be prevented. In the case of children, it is above all the parents who must pay attention to the condition of the complaints and, if necessary, consult a doctor. It is possible that keratitis-ichthyosis-deafness syndrome may reduce or otherwise limit the life expectancy of the affected person.

Here’s what you can do yourself

Since causal treatment of keratitis-ichthyosis deafness syndrome is not possible, the focus is on treating the symptoms. Changes in the skin or cornea should be monitored regularly by a doctor. In this way it is possible to react quickly to any worsening of the condition. Especially rashes, eczema or cracks must be treated immediately, so that no pathogens or germs enter the organism and cause further diseases. In general, meticulous body hygiene is of great importance in this clinical picture, since increased sweating is one of the frequent symptoms. Unfortunately, children suffering from this disease are often bullied, so in this case conversations are an important form of prevention. Patients suffering from short stature due to keratitis-ichthyosis-deafness syndrome may be treated with growth hormones. In this case, respectable results have already been achieved with individual therapies. With the help of specialists, a solution must be sought that will allow those affected to lead as self-determined a life as possible. Due to their hearing loss or deafness, most patients with this condition are severely restricted in their everyday lives. Patients can find help for self-help at the Deutsche Hörbehinderten Selbsthilfe e. V. (German Hearing Impaired Self-Help Association). (DHS) – the non-profit self-help group for the hard of hearing and deaf.