Slang Griscelli Syndrome

According to, Griscelli syndrome is an autosomal recessive pigment disorder of the skin and hair, of which three different manifestations, type 1 to type 3, are known. Each type of hereditary disease is caused by mutations in different genes and is associated to varying degrees with simultaneous enlargement of the spleen and liver, reduced neutrophil counts, and reduced blood platelet counts.

What is Griscelli Syndrome?

Griscelli syndrome is a special form of albinism, which, in addition to reduced pigmentation (hypomelanosis) of the skin and hair, is accompanied by other serious health problems such as a pathologically enlarged liver and spleen ( hepatosplenomegaly ), a reduced number of neutrophilic granulocytes ( neutropenia ) and a reduced number of blood platelets (thrombocytopenia).

Three different manifestations are referred to as type I, type II and type III and are caused by different genetic defects. The Griscelli syndrome must be differentiated from the Chediak-Higashi syndrome, which is accompanied by similar symptoms and, like the Griscelli syndrome, is inherited in an autosomal recessive manner.

This means that the genetic defects are not sex-specific and that the disease only occurs when both pairs of parents have the same causative genetic defects. The symptoms of the hereditary disease were first described in 1978 by the Parisian pediatrician Claude Griscelli. The disease can be classified as rare with a frequency of one case per million births.


All three manifestations of Griscelli syndrome are caused by genetic defects. It is not possible to acquire the disease through infections or exposure to harmful substances. Type I disease is caused by mutations in the MYO5A gene, which encodes the motor protein myosin VA. Mutations in the RAB27A gene are responsible for the type II manifestation of Griscelli syndrome.

The membrane protein encoded by the RAB27A gene belongs to the GTPases superfamily. Type III of the hereditary disease is based on certain mutations in the MLPH gene, which, like the myosin gene, codes for a transport protein associated with the intracellular and transmembrane transport of melanin. While the locus of the MYO5A and RAB27A genes are both located on chromosome 15 in the same region on the long arm (q), the MPLH gene is part of chromosome 2 and is located at position 2q37.3.

Symptoms, Ailments & Signs

The three manifestations of Griscelli syndrome sometimes show different symptoms and symptoms. All manifestations have in common the unusually pale and hypopigmented skin as well as early gray hair, which already shows up in childhood.

More serious than the lack of pigmentation are the disrupted brain functions associated with type 1 of the disease. These manifest themselves in slower development and visual disturbances, as well as a generally weak muscle tone.

Accompanying immunological abnormalities are symptomatic for the progressive form of Griscelli syndrome type 2. As a rule, there is an uncontrolled activation of T lymphocytes and macrophages. Lymph nodes and the CNS are attacked by the activated immune cells. A hemophagocytic syndrome can develop, which is reflected in unrestrained phagocytosis of the erythrocytes.

Type 2 of the hereditary disease is usually not accompanied by neurodevelopmental disorders. However, disorders of the CNS can occur as a result of excessive hemophagocytosis. Only type 3 Griscelli syndrome is not accompanied by serious – sometimes life-threatening – neurological or immunological symptoms.

Diagnosis & History

The suspicion of having one of the three manifestations of Griscelli syndrome is aroused by the appearance of the newborn’s skin, which shows signs of albinism or hypomelanosis. Such signs may give reason to investigate cases of albinism in the families of both sets of parents.

A laboratory technique that provides clear insights into whether and what type of Griscelli syndrome is present does not exist. The only sure possibility of a diagnosis is a molecular genetic DNA analysis. Because the gene defects that trigger the disease are known, a targeted analysis of the three possible genes in question can be carried out.

If it is known that family members have been affected by the disease in the past, prenatal genetic testing using a tissue sample from the chorionic villi is also possible. The course of Griscelli syndrome type 1 has an unfavorable prognosis due to the massive neurodevelopmental disorders.

In type 2 of the disease, neuronal development is normal, but if left untreated, the derailment of the immune system also leads to a very unfavorable prognosis. Only type 3 Griscelli syndrome allows for a normal life expectancy because there are no particular neurological or immunological disorders.


Griscelli syndrome causes pigmentation disorders throughout the patient’s body. The hair is also affected by the disorder, resulting in an unusual appearance. This can lead to teasing or bullying in children, which often leads to psychological problems for those affected. There is also enlargement of the spleen and liver.

These enlargements lead to pain and can also displace or squeeze other internal organs. The affected person looks very pale and is only slightly resilient. The hair is also colored gray in childhood due to the Griscelli syndrome. It is not uncommon for patients to also suffer from visual disturbances and muscle weakness.

The immune system is also weakened, which means that inflammation and infections occur more often. The patient’s everyday life is made more difficult by the disease. Unfortunately, it is not possible to treat Griscelli syndrome. Only symptomatic therapy is possible in some cases and can limit the symptoms of the syndrome. However, it cannot be predicted whether there will be a positive course of the disease.

When should you go to the doctor?

Griscelli syndrome always requires treatment by a doctor. This syndrome does not heal itself and usually leads to a permanent deterioration of the symptoms. A doctor should be consulted if the child suffers from a severely slowed down development. Visual disturbances or weak muscle tone can also indicate Griscelli syndrome. Parents and relatives in particular must pay attention to the symptoms of the syndrome and consult a doctor.

There are also neurological and motor disorders that indicate the disease. Furthermore, a visit to a doctor makes sense if the child has gray hair at an early age or if the skin is affected by unusual pigmentation.

Griscelli syndrome can be diagnosed by a pediatrician or general practitioner. A dermatologist should also be consulted for pigment disorders. Since many patients and their parents and relatives with Griscelli syndrome also suffer from psychological problems, a visit to a psychologist is also advisable.

Treatment & Therapy

Due to the fact that the Griscelli syndrome is caused by gene mutations that affect the metabolism of every single cell of certain tissues in a quasi-systemic manner, there is (still) no therapy to cure the disease.

Any treatment options for type 1 disease are limited to treating the symptoms. If the dreaded hemophagocytic syndrome occurs in type 2, this can only be overcome and cured with a suitable bone marrow donation. There are no other treatment options.

Outlook & Forecast

The prognosis of Griscelli syndrome depends largely on the form of the disease. There are three types, each showing a different development.

In type I, the prognosis is unfavorable due to the significant neuronal disorders. These manifest themselves individually during the development and growth process, are largely considered irreparable and have a strong impact on the patient’s quality of life. A symptomatic therapy is carried out to improve well-being, since the causes cannot be remedied due to the circumstances.

In severe cases, type II can be fatal. The prognosis of this form is unfavorable, since the affected patients have an immune deficiency, which can ultimately lead to premature death. If this type is not treated medically, the disease manifests itself with a constant progression of the disease with no prospect of relief. In some cases, a bone marrow donation can alleviate the symptoms.

In type III patients, there are neither neuronal disorders nor damage to the immune system. Therefore, this form of the disease shows the best prognosis in a direct comparison. Life expectancy is not reduced and the quality of life is comparatively good. Nevertheless, secondary diseases or mental disorders can occur, which contribute significantly to a worsening of the overall prognosis.


Direct preventive measures that could prevent Griscelli syndrome do not exist because the disease is exclusively of genetic origin. If cases of the syndrome are known in the family of one or both parents, genetic counseling can take place to clarify the statistical probability of the disease occurring if the desire to have children is realized. In principle, a genetic analysis can also take place during pregnancy, with all the ethical problems and consequences that may arise from this.


In the case of Griscelli syndrome, the person affected has no special options for aftercare. The focus is on the medical treatment of this disease in order to prevent further complications and symptoms. As a rule, self-healing cannot occur.

It cannot generally be predicted whether the Griscelli syndrome will lead to a reduced life expectancy for those affected. Since this disease is a hereditary disease, genetic counseling should always be carried out if you wish to have children. This may prevent the syndrome from occurring in the descendants.

The treatment of the Griscelli syndrome is purely symptomatic, so that a causal treatment is not possible. Only bone marrow transplantation can completely alleviate the symptoms. The affected person is therefore heavily dependent on the support of other people in his everyday life and in his life.

Above all, the help and support of friends and family has a very positive effect on the further course of the disease. In some cases, contact with other people affected by Griscelli syndrome can also be useful, as this leads to an exchange of information that can make everyday life easier.

You can do that yourself

Griscelli syndrome cannot be prevented. However, if you wish to have children, a genetic analysis or counseling can be carried out in order to possibly avoid the syndrome in the child. Unfortunately, the patient does not have any special options for self-help with this disease.

In many cases, the slowed development of the patient can be compensated for with special support and therapy, so that complications in adulthood are minimized. Visual disturbances can be limited with the help of visual aids. The affected person should always wear the visual aids, as the eyesight can continue to deteriorate.

Since the patients suffer from weak muscle tone, it is important to avoid strenuous activities. Due to the skin complaints, long stays in the sun with direct radiation are not advisable. The affected person should always cover the skin with clothing or protect it with sunscreen.

Furthermore, the support of parents or friends can have a positive effect on the disease and alleviate depression or other upsets. Contact with other patients suffering from Griscelli syndrome also helps here. Treatment by a psychologist is always advisable when support from family and friends is no longer sufficient. Children should also be informed about the symptoms and the further course of the disease.

Griscelli Syndrome