Keratitis Ichthyosis Deafness Syndrome is a disease that is genetically passed on to offspring. Keratitis-ichthyosis-deafness syndrome is comparatively rare. The common abbreviation for the term disease is KID syndrome. Keratitis-ichthyosis-deafness syndrome is primarily characterized by defective keratinization of the skin, hearing loss and an inflamed cornea.
What is Keratitis Ichthyosis Deafness Syndrome?
The development of the disease is mainly due to a so-called point mutation. This genetic mutation occurs on the 13th chromosome. See AbbreviationFinder for abbreviations related to Keratitis-ichthyosis Deafness Syndrome.
Keratitis -ichthyosis deafness syndrome is synonymously referred to as erythrokeratodermia progressiva Burns. As part of the disease, typical cornifications form in the skin area. In addition, the skin is affected by special redness. These two symptoms are also called erythrokeratoderma in the medical field.
In addition, people suffering from keratitis-ichthyosis deafness syndrome suffer from what is known as inner- ear hearing loss. In addition, the cornea becomes inflamed as a result of the disease, with characteristic scarring forming. This phenomenon is medically referred to as vascularizing keratitis. Keratitis-ichthyosis-deafness syndrome is basically a hereditary disease.
Observations strengthen the assumption that the disease is inherited in either an autosomal recessive or autosomal dominant manner in the children of the affected patients. However, a new mutation occurs in many people suffering from keratitis-ichthyosis-deafness syndrome. The disease was first described in 1915 by a dermatologist named Burns.
Causes
Keratitis-ichthyosis deafness syndrome is characterized by genetic causes. 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 in the mutations.
Both an autosomal dominant and an autosomal recessive mode of inheritance of the keratitis-ichthyosis-deafness syndrome are possible. In addition, the disease is caused in numerous cases by new mutation.
Symptoms, Ailments & Signs
Keratitis-ichthyosis-deafness syndrome manifests itself through a variety of symptoms. Changes in the cornea of the sick person are particularly typical. As a result, the cornea becomes opaque, making the patients photophobic. In addition, the clouded cornea usually reduces visual acuity.
The second set of complaints includes the skin symptoms of keratitis ichthyosis deafness syndrome. The main symptoms here are keratinization disorders and reddened areas of skin, rashes on the skin and hives. The hairs of the eyelashes and eyebrows either grow very sparsely or are 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, the people affected sweat more than a healthy person. Other possible malformations affect the mucous membrane 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 deformities associated with 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 hemiplegia. Short stature and cryptorchidism as well as a connection to Hirschsprung’s disease are also typical.
Diagnosis & course of disease
Those suffering from keratitis ichthyosis deafness syndrome have the disease from birth. However, some symptoms only develop over time and become more and more visible with increasing age. If the guardians suspect that their children have keratitis ichthyosis deafness syndrome, they should see the pediatrician as soon as possible.
It is also possible that the first symptoms are discovered by chance during check-ups. First of all, the treating physician carries out an initial anamnesis, with the underage patient suffering from keratitis-ichthyosis-deafness syndrome and his or her legal guardians being present. The existing complaints are analyzed and the time of the first occurrence is discussed.
The pediatrician usually refers the patient to a specialist. Various methods of examination are used there to diagnose keratitis-ichthyosis-deafness syndrome. The first step is a so-called visual diagnosis, in which the doctor analyzes the externally visible signs of the keratitis-ichthyosis-deafness syndrome.
After that, other clinical methods of examination are used. For example, the patient’s blood is subjected to numerous laboratory analyzes so that clues to the disease may be found. X-ray examinations provide indications of short stature, which is already apparent in childhood.
Keratitis-ichthyosis deafness syndrome can be diagnosed with a relatively high level of certainty using a genetic test. In addition to the characteristic combination of symptoms of the disease, the genetic test is considered a reliable means of diagnosis.
Complications
Keratitis ichthyosis deafness syndrome causes those affected to suffer from various symptoms and complications. The primary cause of this syndrome is deafness. This does not have to appear immediately after birth, but it can develop over the course of life. Due to the deafness, those affected are significantly restricted in their lives and everyday life.
There are also various malformations in the oral cavity, so that patients are dependent on various treatments from a dentist. Increased sweating also occurs, which significantly reduces the patient’s quality of life. Rashes or itching on the skin are not uncommon. Likewise, many patients suffer from severe short stature.
Balding can also occur on the head, and it is not uncommon for the patient to be missing eyelashes or eyebrows. These ailments of keratitis ichthyosis deafness syndrome can also lead to bullying or teasing in children. Intellectual development, however, is not limited. A causal treatment of the keratitis-ichthyosis-deafness syndrome is not possible. However, the symptoms can be treated relatively well, so that the life expectancy of the patient is not reduced by the syndrome.
When should you go to the doctor?
Patients with keratitis-ichthyosis deafness syndrome show abnormalities in their eyes, hearing and skin. If hearing loss is noticed in a newborn, a doctor’s visit is necessary. If a significant reduction in hearing develops over the course of life, medical examinations should also be initiated. Malformations in the oral cavity, heavy sweating or loss of hair on the head are causes for concern.
Sparse eyelashes, eyebrows or hair on the head are considered unusual. A doctor’s visit is required to clarify the cause. If a change in the cornea or clouding of the lens is noticed, a doctor must be consulted. In the case of sensitivity to normal light influences, it is advisable to consult a doctor, as this is a warning signal from the organism. If there are any special features of the skin, a doctor is also required.
Itching and open sores, rashes, and redness of the skin are a condition that needs to be evaluated and treated. Without adequate medical care, other pathogens can get into the organism and trigger additional diseases. People who are short stature, show neurological abnormalities or suffer from hemiplegia require a comprehensive medical examination. If there are changes in the tongue or the mucous membranes in the mouth and throat, a doctor’s visit is advisable.
Treatment & Therapy
Basically, according to the current state of medical science, it is not yet practicable to treat the cause of keratitis-ichthyosis-deafness syndrome. Because it is a genetic disease. Instead, a symptomatic treatment of the keratitis-ichthyosis-deafness syndrome is possible, so that the quality of life of the affected person is improved.
For example, the skin complaints can be alleviated with appropriate medicines. The changes in the cornea are also regularly checked by a doctor in order to stop an increasing deterioration of the condition if possible. Under certain circumstances, short stature can be treated with the administration of growth hormones. The goal of treatment is also to enable patients with keratitis-ichthyosis-deafness syndrome to live as independently as possible.
Outlook & Forecast
The prognosis of keratitis-ichthyosis-deafness syndrome is unfavorable. The patient suffers from a genetic disease that cannot be cured according to current medical knowledge. Scientists and researchers are prohibited from changing human genetics due to the current legal situation. Therefore, the cause of the genetic disposition can neither be corrected nor eliminated.
Therapy is only possible by treating the symptoms. Since the patient suffers from a hearing impairment, the physicians have few options for adequate treatment. Growth disorders can be improved in some of those affected by the administration of hormonal preparations. However, the therapy is associated with risks and side effects and can only be used in the development and growth process of the patient.
In an adult, the administration of hormones does not lead to any changes in physical size. In addition, there is a risk of various consequential damage due to the existing health impairments. In addition to an increased risk of accidents and injuries, those affected are exposed to strong emotional stress. A restructuring in coping with everyday circumstances and adaptation to the patient’s possibilities are necessary so that the quality of life can be optimized. If the course of the disease is unfavorable, there is a risk 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. Adequate treatment and care of people affected by keratitis-ichthyosis-deafness syndrome is important.
Aftercare
In most cases, the options for aftercare for keratitis-ichthyosis deafness syndrome are severely limited or are not available to those affected. For this reason, a quick and, above all, early diagnosis of this disease must take place first and foremost in order to prevent further complications or a further deterioration of the symptoms.
As a rule, self-healing cannot occur, so that those affected should ideally consult a doctor at the first signs and symptoms of the disease. If there is a desire to have children, the patient should have a genetic test and counseling carried out so that the syndrome cannot recur in the children. Since the syndrome significantly increases the likelihood of tumors, regular examinations and check-ups by a doctor are necessary.
It is often necessary for the affected person to have the support of their parents or other relatives. In this way, psychological complaints or depression can also be prevented. In the case of children, parents in particular must pay attention to the condition of the symptoms and, if necessary, consult a doctor. The life expectancy of the person affected may be reduced or otherwise limited by the keratitis-ichthyosis-deafness syndrome.
You can do that yourself
Since a causal treatment of the keratitis-ichthyosis-deafness syndrome is not possible, the focus is on treating the symptoms. Changes in the skin or cornea should be checked regularly by a doctor. This makes it possible to react quickly to a possible deterioration in the condition.
Rashes, eczema or tears in particular must be treated immediately so that no pathogens or germs penetrate the organism and cause further diseases. In general, meticulous body hygiene is of great importance with this clinical picture, since the frequent symptoms also include increased sweating. Unfortunately, children suffering from this disease are often bullied, so when this happens, talking is an important form of prevention.
Patients suffering from short stature due to keratitis ichthyosis deafness syndrome may be able to be treated with growth hormone. In this case, respectable successes have already been achieved with individual therapies. With the help of medical specialists, it is important to find a solution that will enable those affected to lead as self-determined a life as possible. Due to their hearing impairment or deafness, most patients with this clinical picture are severely restricted in their everyday life. Sick people can find help to help themselves at the German Hearing Impaired Self-Help Association. V. (DHS) – the non-profit self-help group for the hard of hearing and the deaf.