CEDNIK syndrome is a congenital disease that is manifested by abnormalities of the skin as well as disorders of the nervous system. The patients with CEDNIK syndrome mainly suffer from keratoderma as well as hyperkeratosis. Thereby the cornification processes of the skin are impaired. On the nervous system, CEDNIK syndrome is particularly manifested by developmental disorders.
What is CEDNIK syndrome?
Basically, the disease term of CEDNIK syndrome represents an acronym that summarizes the leading symptoms of the disease. These include ichthyosis, cerebral dysgenesis, palmo-plantar keratoderma, and neuropathy. The first description of CEDNIK syndrome according to scientific guidelines was made by Sprecher, a physician, in 2005. Individuals with CEDNIK syndrome suffer from pronounced disturbances in the developmental processes of the nervous system. In addition, the epidermis does not differentiate as it does in healthy people, so that CEDNIK syndrome also causes symptoms on the skin. Due to this combination of typical symptoms, the CEDNIK syndrome belongs to the neurocutaneous syndromes. Currently, only about seven people are known to medical science who suffer from CEDNIK syndrome. These are four female and three male patients. A striking feature of the affected individuals is that they are children from consanguineous families. Thus, there is a blood relationship between the parents. CEDNIK syndrome has an autosomal recessive pattern of inheritance. The causes of CEDNIK syndrome are found in genetic mutations on the SNAP29 gene. Medical experts estimate the prevalence of CEDNIK syndrome to be less than 1 in 1,000,000 based on the cases of the disease that have occurred to date.
Causes
The pathogenesis of CEDNIK syndrome is closely related to certain genetic mutations. For example, all patients with CEDNIK syndrome studied to date have typical gene mutations on the SNAP29 gene. This gene is located on gene locus 22q11.2 and is responsible for coding the so-called SNAPE protein. Thus, it participates in the connection of different vesicles. Gene mutations on this gene lead, for example, to the cornification disorders that are typical of CEDNIK syndrome.
Symptoms, complaints, and signs
CEDNIK syndrome manifests itself in characteristic complaints that quickly give medical experts clues about the disease. For example, most symptoms are present at birth and are recognizable by physicians and parents. These include, for example, the facial malformations typical of CEDNIK syndrome. Affected children have an unusually broad nasal bridge, hypertelorism and an antimongoloid eyelid. In addition, babies and toddlers affected by CEDNIK syndrome are unable to control their head and trunk normally. In addition, the gaze of children affected by CEDNIK syndrome often wanders back and forth restlessly. All of the symptoms and signs of CEDNIK syndrome are seen either in newborn babies or in patients as young children.
Diagnosis and course
Diagnosis of CEDNIK syndrome is sometimes difficult because only a few cases of the disease have been reported to date, and numerous physicians rarely consider the condition during examinations because of its rarity. In principle, however, the external appearance of newborn children with CEDNIK syndrome indicates a congenital disease immediately after delivery, so that further clinical examinations usually follow quickly. It is important that the parents of the child take part in the anamnesis and give the physician information about comparable cases of the disease in the family. Since the previous cases of CEDNIK syndrome are children from consanguineous unions, a comprehensive family history is particularly relevant. During the patient interview, the guardians describe the baby’s or toddler’s complaints and any abnormalities during pregnancy. The subsequent clinical examination uses numerous techniques. At the beginning, for example, the specialist performs visual examinations, focusing primarily on the skin and in particular on the typical disorders of the keratinization processes. The abnormalities of the face also provide important clues to the CEDNIK syndrome. A specialist in neurology is usually involved in the examination of the neurological complaints. Finally, a definite diagnosis of CEDNIK syndrome is usually made with the help of genetic tests.Molecular genetic examinations of the patient are used to detect the triggering gene mutations. However, prior family history and clinical examinations are important to narrow down the gene region to be analyzed more precisely.
Complications
Various abnormalities occur in patients due to CEDNIK syndrome. The development of children is also significantly disturbed by the syndrome and is usually also severely delayed. Malformations of the eyes and nose occur. Due to these malformations, children in particular can become victims of teasing and bullying at school and kindergarten, which can not infrequently lead to psychological complaints and other complications. In most cases, the behavior of affected children is relatively restless and concentration is greatly reduced. This sometimes leads to complaints in adulthood. As a rule, the parents of the children also suffer from severe psychological complaints or depression due to CEDNIK syndrome. In most cases, the syndrome is diagnosed directly in the mother’s womb, so that treatment can also be carried out after birth. This is done primarily by surgically removing the malformations. The altered behavior can also be improved through various therapies and discussions with a psychologist. As a rule, life expectancy is not affected by CEDNIK syndrome and is therefore not limited.
When should you see a doctor?
In most cases, CEDNIK syndrome causes various limitations and disturbances in the patient’s development. For this reason, it is usually necessary to see a doctor whenever developmental disorders occur as a result of CEDNIK syndrome. The earlier the disease is diagnosed and treated, the better the prospects for a complete cure of the syndrome. As a rule, CEDNIK syndrome may also cause cornification disorders of the skin. In this case, a doctor should also be consulted. In most cases, however, the disease is diagnosed immediately after birth or in the first months of life due to the malformations. This is done by the pediatrician or by the general practitioner. If the developmental symptoms do not appear until later in life, a doctor should also be consulted in any case. As a rule, the symptoms of CEDNIK syndrome can be treated by various specialists. Early treatment has a very positive effect on the further course of this disease.
Treatment and therapy
There is no cure for CEDNIK syndrome at the present time. The children with CEDNIK syndrome suffer from the disease from birth, and a causal therapy is basically excluded. Therefore, doctors treat CEDNIK syndrome mainly with regard to the individual symptoms. Regarding the facial deformities, surgical interventions are considered, which perform a cosmetic correction of the anomalies. Regarding the neurological symptoms of CEDNIK syndrome, patients sometimes receive drug therapy. If necessary, children attend special school and special care facilities. If the presence of CEDNIK syndrome gene mutations is known in families, genetic counseling is strongly recommended. This makes sense in CEDNIK syndrome, especially in family planning.
Outlook and prognosis
No causal therapy is possible in CEDNIK syndrome. Affected individuals are thereby dependent on purely symptomatic treatment, which, however, cannot completely resolve the symptoms. Some anomalies and malformations can be solved by surgical interventions. This mainly improves the aesthetics of the affected person. Affected children with the CEDNIK syndrome are dependent on intensive therapy and usually on attending a special school in their lives, so that complications do not arise later in life. However, the syndrome itself does not lead to a reduced life expectancy. The parents of the child should take the syndrome into account in further family planning and undergo genetic counseling to prevent further occurrence. If the malformations in the patient are not corrected, they will lead to significant limitations in the daily life of the affected person. Often, this also leads to psychological complaints or depression.In most cases, the paralysis can no longer be alleviated, so that the affected children are always dependent on outside help in their daily lives. The cornification disorders of the skin can also only be treated symptomatically, so that those affected are dependent on lifelong therapy.
Prevention
CEDNIK syndrome is congenital and prenatal prevention is not possible. However, previous cases of CEDNIK syndrome indicate relatively clearly that children from consanguineous unions are at particular risk. Such circumstances should be considered in family planning to reduce the risk of disease with respect to CEDNIK syndrome.
Here’s what you can do yourself
With the congenital disorder, there are no self-help options that will lead to relief or cure of the disease. Depending on the extent of the facial deformities, changes can be achieved by working with a surgeon. Nevertheless, a visual blemish remains that cannot be adjusted to the norm. An infant cannot develop feelings of shame or appreciate the significance of the existing optical changes in everyday life. For these reasons, the needs of the parents or close relatives are more important in this condition. The child’s face can be easily covered with accessories if desired. However, further measures, such as the use of cosmetic products, are not advisable. An open approach to the disease and its symptoms is helpful in creating an acceptable situation for the child as well as for the parents. For this, the persons of the closer social environment should be informed comprehensively about the CEDNIK syndrome. This helps to reduce unpleasant situations in everyday life. In addition, parents can seek therapeutic help or exchange their feelings in self-help groups. The use of relaxation techniques is also recommended. These support with the daily challenges and reduce the stress that arises.
