Johanson-Blizzard Syndrome is a hereditary disease that rarely occurs. Those affected suffer from developmental disorders of the pancreas, scalp and nose.
What is Johanson Blizzard Syndrome?
With only 30 known cases worldwide, Johanson-Blizzard Syndrome is one of the rarest diseases of all.
Johanson -Blizzard Syndrome (or JBS as defined on Abbreviation Finder) is a rare hereditary disease that can sometimes even be fatal. The syndrome is also considered ectodermal dysplasia and is classified as a pancreatic disease. In addition to developmental disorders in the pancreas, head and nose, there are also hearing problems, short stature and reduced intelligence.
The syndrome got its name from the American pediatricians Ann J. Johanson and Robert M. Blizzard. The two doctors described the disease for the first time in 1971. Johanson-Blizzard Syndrome is considered a very rare disease. So far, only about 30 cases are known.
Causes
Johanson-Blizzard Syndrome is inherited in an autosomal recessive manner. In most patients, a mutation in the UBR-1 gene, which is located on chromosome 15, is the cause of the onset of the disease. UBR 1 encodes a ubiquitin ligase. Ubiquitins are proteins that are expressed in eukaryotic organisms.
They are important for the post-translational modifications of other proteins, which are labeled when they are broken down. Furthermore, UBR 1 plays an important role in regulating cell growth in the pancreas. If a mutation of the UBR 1 gene causes Johanson-Blizzard Syndrome, this results in disturbances or interruptions in the synthesis of ubiquitin ligase.
In healthy people, a larger amount of UBR 1 is produced within the pancreatic gland ducts than is the case in other body cells. Decreased production of ubiquitin ligase causes dysfunction of the ubiquitin-proteasome complex, which in turn leads to chronic inflammation of the pancreas. The organ stroma is replaced by connective tissue and fat.
At the same time, errors in the supply of the acini and the islets of Langerhans occur. Furthermore, a failure of apotosis in damaged cells and defective production of proteins take place. This process can also occur in tissues thought to be prone to improper UBR-1 expression. These primarily include the central nervous system, the formation of the teeth, the innervation of the skeletal muscles and the region of the skull.
Symptoms, Ailments & Signs
Johanson-Blizzard Syndrome encompasses a variety of symptoms and disorders. The main symptom is exocrine pancreatic insufficiency. This is associated with a lack of trypsin, trypsinogen, lipase and other components of the pancreatic secretion, which in turn results in malassimilation. This means that the patient is unable to utilize the substrates he ingests from food.
In some cases, a complete fatty degeneration of the pancreas occurs, the progression of which can sometimes even mean death. It is not uncommon for the Johanson-Blizzard Syndrome to cause diabetes (diabetes mellitus). Other endocrine disorders include pituitary insufficiency, growth hormone deficiency, and hypothyroidism of the thyroid gland.
Due to the growth disorders, those affected suffer from short stature. Malformed nostrils are also typical features of Johanson-Blizzard Syndrome. In some patients, the muscles, connective tissue and cartilage on the nose are completely missing.
As a result, the patient’s nose takes on an unusual appearance. In addition, numerous JBS patients are affected by intellectual disability, which varies from person to person. There are also isolated cases of normal intelligence. People with JBS often also suffer from sensorineural hearing loss in both ears.
The reason for this are cystic changes in the cochlea and vestibular system. The hearing damage is further promoted by changes in the temporal bone. Craniofacial dysmorphism is also typical of Johanson-Blizzard syndrome. These include a thin scalp, scalp defects and irregular hair growth.
The absence of eyebrows and eyelashes, flattened auricles, a convex forehead, a lower jaw that is too small and the absence of permanent teeth are also known as external characteristics. In some cases, other organ systems also suffer from Johanson-Blizzard Syndrome.
The most common disorders include low birth weight, failure to thrive, anal atresia, dual vaginal uterus in females, hypotonia, congenital cataracts, and neonatal jaundice.
Diagnosis & course of disease
The malabsorption syndrome, which is associated with greasy and bulky stools, is an important indicator for the diagnosis of Johanson-Blizzard syndrome. Short stature is also classified as a characteristic symptom of JBS.
The diagnosis is usually clinical and based on certain laboratory parameters. A differential diagnosis of Shwachman-Bodian-Diamond syndrome (SBDS) and cystic fibrosis can also be important. Due to a therapy with pancreatic enzymes that is now possible, the life expectancy of the sick children has improved. However, this increases the increase in diabetes mellitus.
Complications
Due to the Johanson-Blizzard Syndrome, the patients mainly suffer from developmental disorders, whereby the internal organs are also affected by this disorder. As a rule, the affected person cannot absorb nitrates from food, which leads to deficiency symptoms and often to underweight. It can also lead to diabetes and short stature.
It is not uncommon for those affected to also suffer from missing nostrils and thus reduced aesthetics. Johanson-Blizzard Syndrome also leads to reduced intelligence and talent. It is not uncommon for hearing damage or eye problems to occur. Eyelashes or eyebrows can also be missing and severe malformations or damage to the teeth can occur.
Due to the deformities, children may become victims of teasing and bullying. The patient’s quality of life is significantly reduced by the Johanson-Blizzard Syndrome. It is not possible to treat the Johanson-Blizzard Syndrome causally, therefore the treatment is purely symptomatic for this reason. The reduced intelligence can be limited relatively well with the help of therapies. No other complications arise. As a rule, however, life expectancy is limited by Johanson-Blizzard Syndrome.
When should you go to the doctor?
If disorders of physical or mental development can be noticed in children, a pediatrician should be consulted. In the case of short stature, deformities or general growth disorders, the signs must be examined by a doctor. Various tests must be carried out to clarify the cause. A special feature of the disease is a malformation of the face. The area of the nostrils has mutated due to the genetic defect and is considered an indication of an existing irregularity.
Often there is a lack of tissue, cartilage or muscles in the nose area, which leads to the visual conspicuousness. A doctor’s visit is necessary for treatment to begin. If hearing or balance impairment is noticed, a doctor’s visit is required. A doctor should be consulted in the event of unsteady gait, abnormal sounds or hearing impairment. If the affected person is missing permanent teeth, discrepancies in the jaw are recognizable or eyebrows and eyelashes are missing, a doctor is needed to clarify the symptoms.
If peculiarities of the female gender are noticed in girls, a doctor should also be consulted. Since Johanson-Blizzard Syndrome can lead to premature death in severe cases, it is advisable to consult a doctor at the first indication of irregularities. Only through individual treatment and targeted therapies can quality of life be improved and lifespan extended.
Treatment & Therapy
A causal treatment of Johanson-Blizzard Syndrome is not possible. For this reason, therapy is limited to relieving the symptoms. The type of complaints and their extent play an important role.
To treat pancreatic insufficiency, the enzymatically active substance pancreatin, which is obtained from the pancreas of pigs, is administered. In the case of deformities in craniofacial regions of the body or in the skeleton, surgical intervention can help to correct them.
If there is a hearing impairment, the use of hearing aids and special training are considered sensible. In the case of a lack of talent, adapted occupational therapy measures are available, which are specifically aimed at people suffering from Johanson-Blizzard Syndrome.
Outlook & Forecast
With only 30 known cases worldwide, Johanson-Blizzard Syndrome is one of the rarest diseases of all. Johanson-Blizzard Syndrome used to be a death sentence because it started in infants. The numerous consequences of the disease made survival mostly impossible. Today the situation for those affected is somewhat better. However, it is not yet known whether it is actually a hereditary disease of the pancreas.
Modern medicine today treats the sick with pancreatic enzymes. This improved the prospects. Nevertheless, given the severity and variety of the symptoms of the disease, long-term survival is unlikely. The problem is that children affected by Johanson-Blizzard Syndrome are affected by diabetes as their life expectancy increases.
This usually leads to damage to the pancreatic tissue – similar to cystic pancreatic fibrosis. Finally, endocrine pancreatic insufficiency occurs. If the consequences of the disease are serious, the prognosis for some of those affected is poor, despite certain treatment options and despite a longer lifespan.
In some cases, however, symptomatic treatment of Johanson-Blizzard Syndrome can be more successful. Depending on the severity, pancreatic insufficiency can be substituted with pancreatin. Surgical correction of head and skeletal deformities is now possible. Hearing aids and hearing schools can improve hearing loss. Ergotherapeutic measures can also be helpful and improve the prognosis.
Prevention
Prevention of Johanson-Blizzard Syndrome is not considered possible. It is a disease that is congenital.
Aftercare
There are no special self-help measures for aftercare for Johanson-Blizzard Syndrome. Long-term medical treatment is therefore essential. Close monitoring is required so that any complications such as pancreatic insufficiency can be recognized quickly. Such ailments are treated with special drugs.
Patients must take the medicines according to the specialist doctor’s recommendation. Since the disease is often accompanied by retardation, they often need the support of their parents. If the hereditary disease causes deformities or malformations, surgical intervention may be necessary.
In everyday life, the patients need the support of their families, since they mostly have only limited intelligence. The doctors are familiar with the options and inform the parents concerned about the special support for these children. Loving care costs a lot of effort, but ensures a better quality of life.
There are many learning exercises that can be done at home that train cognitive skills. Occupational therapy applications are available for physical health. The patients and their families also benefit from the contact and exchange of information with other affected people. In the meantime, the life expectancy of the patients has increased: Then the parents have to reckon with diabetes mellitus later.
You can do that yourself
Since Johanson-Blizzard Syndrome is a hereditary disease, it cannot be treated causally. Likewise, the person concerned does not have any special self-help measures at their disposal, so that they are dependent on medical treatment in any case.
If there is an insufficiency of the pancreas, it is usually treated with medication. The person concerned must ensure that they take these medications regularly in order to avoid complications and other complaints. Parents must also ensure that their children take it regularly. Deformations and malformations of the skeleton can only be treated by surgical intervention.
Since most patients also suffer from reduced intelligence, they are dependent on the help of other people and special support in their everyday life. The care of those affected must be loving. Parents can also carry out various learning exercises with their children at home in order to promote the development of the person concerned. Ergotherapy measures can also be very helpful here. Furthermore, in the case of Johanson-Blizzard Syndrome, contact with other affected people has a very positive effect on the disease, as this leads to an exchange of information.