Dorfman-Chanarin Syndrome

Dorfman-Chanarin Syndrome Definition and Meaning

When neutral lipid storage disease is an inherited metabolic disorder that affects the storage of triglycerides. This syndrome is one of the so-called storage diseases. Due to the genetic basis, a causal treatment of the disease is not possible.

What is Dorfman-Chanarin Syndrome?

Dorfman-Chanarin syndrome is an extremely rare storage disease with abnormal storage of triglycerides (neutral fats) in various body cells. The fats are mainly stored in the fibroblasts, liver cells, muscles, nerve cells and leukocytes. However, there is no longer any triglyceride degradation there.

According to general estimates, the incidence of this condition is 1 in 1 million. So far, only 50 cases have been described worldwide. Most of the people affected come from India and the Middle East. The storage disorder goes hand in hand with ichthyosis (fish scale disease). Sometimes this is the only symptom. However, the disease must be differentiated from other forms of neutral lipid storage disorders.

There are also neutral lipid storage diseases without ichthyosis but with myopathy, which are also known as NLSDM. However, Dorfman-Chanarin syndrome is a neutral fat storage disorder with ichthyosis and is also known as NLSDI. The syndrome was first described by the dermatologist Dorfman in 1974.

Other names for this disease are Chanarin-Dorfman syndrome, lipidosis with triglyceride storage disease, myopathy with neutral fat storage or neutral fat storage disease. The disease already exists from birth. Despite some physical limitations, however, the life expectancy of those affected is often not reduced.

Causes

A possible cause of Dorfman-Chanarin syndrome is a mutation in the ABHD5 gene. Various mutations of this gene were found, which render the enzyme for the breakdown of neutral fats inoperable. The condition is inherited as an autosomal recessive trait. There are individual descriptions of cases where, for example, marriages of relatives have led to the development of this syndrome.

Symptoms of the disease are caused by an abnormal accumulation of neutral fats (triglycerides) in leukocytes, nerve cells, fibroblasts, liver cells, and muscle cells. Either the triglyceride-degrading enzyme is missing or its function is restricted. As a result, no more neutral fats can be broken down.

These accumulate in the corresponding cells and cause functional disorders in the corresponding organs. Where possible, the excess fat is transported out of the cells and removed from the body via the intestines in the form of fatty stools. However, most of the fat is stored permanently and changes the way cells function.

The lipid storage in the keratinocytes disrupts the natural permeability barrier of the skin. To compensate for this, new keratinocytes are constantly being formed, which ultimately lead to a fish-scale-like thickening of the skin. In this way a certain barrier is built up, but the skin can no longer perform its normal function of heat exchange correctly.

Symptoms, ailments & signs

Dorfman-Chanarin syndrome mainly manifests itself as a congenital ichthyosis affecting all skin areas. The skin layer is thickened by hyperkeratosis and forms a scaly body surface. The skin is also reddened and inflamed. Sometimes ichthyosis remains the only symptom of the disease.

Over time, however, functional disorders of other organs often develop as well. The fat storage in the liver causes hepatosplenomegaly (liver enlargement due to fat storage). Furthermore, there is a leukocyte abnormality (Jordans abnormality) with progressive [[muscle wasting [muscular dystrophy] | muscular dystrophy]]. Fats are also deposited in the eyes, which lead to cataracts and nystagmus.

The involvement of the nervous system causes giftedness, motor disorders and hearing loss. A ataxia usually develops only from the middle age. Often the patients also suffer from short stature. The fats stored in the liver cause so-called fatty stools.

Diagnosis

When diagnosing Dorfman-Chanarin syndrome, other diseases that are also associated with ichthyosis must first be clarified using a differential diagnosis. The cholesterol and fat levels in the blood are usually normal.

Only the liver values ​​and the muscle enzymes can be increased. In addition, the granulocytes can be examined histologically using lipid staining.

When should you go to the doctor?

If there are other symptoms in addition to the characteristic hyperkeratosis, a doctor should always be consulted. Malfunctions in other organs and disorders of the nervous system require rapid clarification. Anyone who notices the first signs of motor disorders or hearing loss is best to speak to the responsible doctor. Symptoms of cataract and nystagmus as well as regular fatty stools are typical warning signs that Dorfman-Chanarin syndrome is going to be severe.

Even if these secondary symptoms do not occur, you should see a doctor regularly with the metabolic disorder. The medical professional must monitor the course and make sure it is positive. In addition, the medication has to be adjusted occasionally, which only the doctor can do.

In particular, ichthyosis, which exists from the start, needs permanent treatment to prevent infections, itching and other unpleasant skin reactions. Consult a doctor if bleeding or infection develops. In the event of severe complaints, the emergency medical service or the nearest hospital can be contacted.

Treatment & Therapy

Treatment of Dorfman-Chanarin syndrome can only be symptomatic as it is a genetic disease. In order to avoid further fat storage, sufferers are advised to follow a low-fat, high-protein diet. Furthermore, triglycerides with fatty acids of medium chain length should also be supplemented.

This does not cure Dorfman-Chanarin syndrome, but it can slow its progression. All other treatments are for symptom relief. First of all, the main symptom is ichthyosis. As with all ichthyoses, its treatment is very complex. It is important to apply lotion and bathe the skin frequently. Keratolytics are also used, which soften the cornea and make it easier to remove.

For most ichthyosis Urea (has Urea) proven to be a keratolytic. Urea is used in the form of creams and ointments containing urea. If treatment of the skin is neglected, painful cracks form in the dry skin, which further restricts its function. The severe forms of ichthyosis can, however, be treated with systemic retinoid therapy, whereby both keratolytic and keratinization-inhibiting processes take place.

However, irreversible side effects can occur with this treatment. With the help of these therapies, the peeling of the skin and its defense against infections can be supported. A causal treatment of Dorfman-Chanarin syndrome is not possible, however.

Outlook & forecast

Dorfman-Chanarin syndrome is a genetic disease. For this reason, a causal therapy of this disease is usually not possible, so that the patients always have to rely on symptomatic treatment.

The complaints are very diverse and are exacerbated if no treatment is initiated. This leads to hearing and visual problems, with most of those affected also suffering from reduced intelligence and giftedness. Many patients also suffer from short stature and motor disorders. The development of the child is considerably slowed down and restricted by the Dorfman-Chanarin syndrome, so that complications can also occur in adulthood.

The therapy is based on the exact complaints and is primarily aimed at the normal development of the child. With the help of intensive therapies and various support measures, the motor disorders can be remedied. Reduced intelligence can also be restricted as a result. However, a complete cure is not achieved.

With the help of various creams, the skin complaints can also be alleviated, so that the quality of life of the person concerned is increased. Dorfman-Chanarin syndrome usually does not have a negative impact on life expectancy. However, it can also lead to severe psychological complaints for the parents or relatives.

Prevention

Since Dorfman-Chanarin syndrome is a genetic disease, there are no preventive measures to prevent it. However, it is important to treat the ichthyosis, which has already existed from the beginning, on a permanent basis in order to prevent infections and unpleasant skin reactions.

Aftercare

As a rule, those affected with Dorfman-Chanarin syndrome have no special or direct measures and options for follow-up care available. In this syndrome, the early detection and treatment of the symptoms is primarily necessary so that there are no further complications or a further worsening of the symptoms. Since it is also a genetic disease, there is no complete cure.

If the patient wishes to have children, genetic counseling can be helpful in order to prevent the Dorfman-Chanarin syndrome from being inherited. In most cases, those affected are dependent on taking medication and continuing to use creams and ointments. It is important to ensure that it is taken regularly and that the dosage is correct in order to permanently alleviate the symptoms.

The symptoms should be checked at regular intervals by a doctor. Since the Dorfman-Chanarin syndrome can often lead to psychological upsets, intensive discussions with friends or with your own parents are also very useful. As a rule, Dorfman-Chanarin syndrome does not reduce the patient’s life expectancy.

You can do that yourself

Dorfman-Chanarin syndrome is an extremely rare congenital metabolic disorder that is associated with abnormal storage of triglycerides. The disease is genetic, the patient cannot take any self-help measures that have a causal effect. However, it can help alleviate the symptoms.

This is especially true in the case of ichthyosis (fish scale disease), which almost always occurs. The affected skin must be cared for very carefully by those affected. Good results are achieved with warm baths enriched with Dead Sea salt. After bathing, the skin must be dried thoroughly and creamed.

Ointments that contain the active ingredient urea (urea) are particularly effective, as this has a horn-loosening effect. The patient should never skip the daily care routine. Neglecting the affected skin areas very quickly leads to an exacerbation of the symptoms. Often painful or bleeding cracks and fissures form, which are associated with an increased risk of secondary infections. In these cases a doctor should always be consulted immediately.

The abnormal storage of triglycerides in the body can usually not be prevented by an adequate diet, but it can at least be greatly alleviated. Those affected should prefer a low-fat, vitamin-rich diet. Patients are best advised by an ecotrophologist about the necessary change in diet.

Dorfman-Chanarin Syndrome