Griscelli Syndrome
What is Griscelli Syndrome?
Griscelli syndrome is a rare, inherited condition characterized by hypopigmentation, or light skin and light hair. Griscelli syndrome is an autosomal recessive disorder, which means that there must be two copies of an abnormal gene present, one from each parent, in order for an individual to inherit the disease.
Scientists have identified three types of Griscelli syndrome, each affected by hypopigmentation with varying symptoms. Type 1 Griscelli syndrome is associated with neurological impairment such as delayed development, intellectual disability, and seizures. Type 2 is associated with immune system abnormalities. Affected individuals often develop hemophagocytic lymphohistiocytosis, a potentially fatal condition in which the immune system produces too many T-lymphocytes and macrophages, two types of white blood cells, and causes damage to organs and tissues. Type 3 Griscelli syndrome is isolated since there are no other symptoms that accompany hypopigmentation, unlike Type 1 and Type 2.
Griscelli syndrome is a rare, inherited condition characterized by hypopigmentation, or light skin and light hair. Griscelli syndrome is an autosomal recessive disorder, which means that there must be two copies of an abnormal gene present, one from each parent, in order for an individual to inherit the disease.
Scientists have identified three types of Griscelli syndrome, each affected by hypopigmentation with varying symptoms. Type 1 Griscelli syndrome is associated with neurological impairment such as delayed development, intellectual disability, and seizures. Type 2 is associated with immune system abnormalities. Affected individuals often develop hemophagocytic lymphohistiocytosis, a potentially fatal condition in which the immune system produces too many T-lymphocytes and macrophages, two types of white blood cells, and causes damage to organs and tissues. Type 3 Griscelli syndrome is isolated since there are no other symptoms that accompany hypopigmentation, unlike Type 1 and Type 2.
Griscelli syndrome is an extremely rare disorder; as of 2007, there have been approximately 60 cases reported worldwide. Although Griscelli syndrome can affect any race, many cases are from Turkish and Mediterranean populations. The disorder often affects children from 4 months to 4 years of age with a mean age of 17.5 months.
There are three different types of Griscelli syndrome and each type is caused by a mutation in a different gene. Types 1, 2, and 3 are caused by mutations in the MYO5A gene, the RAB27A gene and MLPH gene respectively. Inside cells called melanocytes, these genes produce proteins that transport melanosomes. Melanosomes are organelles inside animal cells that produce a pigment called melanin, which is the pigment responsible for the color of skin, hair, and eyes. A mutation in any one of these genes prevents the transportation of melanin from melanocytes to other cells to produce normal pigmentation. The result is the characteristic light skin and light hair associated with Griscelli syndrome.
The MYO5A gene produces a protein that transports materials within nerve cells that are important to cell function, which may explain why a mutation causes neurological impairment in Type 1 Griscelli syndrome. Likewise, the RAB27A gene releases compounds that kill viruses and bacteria, but its function is impaired by mutations to the gene, leading to complications related to Type 2 Griscelli syndrome.
Griscelli syndrome is characterized by hypopigmentation, or light skin and light hair, which appears silver. Individuals are often described as having “silvery hair”. Additional symptoms include enlargement of the liver and spleen, low blood platelet level, and defects of the immune system (immunodeficiency). Type 1 individuals may also have cognitive disabilities and eye dysfunction, possibly leading to blindness. Other neurological symptoms include hydrocephaly (excessive accumulation of fluid in the brain), abnormal muscle tone, poor coordination, hemiplegia or hemiparesis (paralysis on one side of the body), and seizures. Type 2 Griscelli syndrome can also cause decreased immune function, especially in the presence of a viral or bacterial infection due to uncontrolled lymphocyte activity. As a result, the lymph nodes on the groin, neck, chest, and abdomen may become swollen. Individuals with Type 3 Griscelli syndrome do not experience the neurologic or immune system problems associated with Types 1 and 2.
In general, the first symptoms of Griscelli syndrome will appear from four months to four years of age. The first observed symptom of Griscelli syndrome is usually silver hair, indicating a decreased melanin production. This is followed by neurological symptoms, which may even develop at birth.
A skin biopsy can help distinguish Griscelli syndrome from other types of albinism by microscopic examination. Clumps of pigment in hair shafts viewed under the microscope are a characteristic feature. Blood cell counts may reveal abnormal white cell and platelet levels. Genetic testing for the type-specific gene variants can be performed.
As of now, there is no cure for Type 1 Griscelli syndrome and treatment is symptomatic. With current technology, it is not yet possible to reverse the neurological impairment caused by Griscelli syndrome. For Type 2 Griscelli syndrome, the most effective treatment is bone marrow transplantation. Antibiotics and antiviral agents may be used to treat recurrent infections. Type 3 Griscelli syndrome may require no active treatment.
Type 2 Griscelli syndrome can be fatal within 1-4 years without treatment after onset. The prognosis of affected individuals is uncertain even with bone marrow transplantation.
Griscelli Syndrome. Genetics Home Reference website. http://ghr.nlm.nih.gov/condition/griscelli-syndrome. Updated September 12, 2013
De Saint-Basile-Chazelas G. Griscelli Disease. Orphanet website. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=381. Updated January 2007.
GRISCELLI SYNDROME, TYPE 1; GS1. Online Mendelian Inheritance in Man website. http://www.omim.org/entry/214450. Updated August 8, 2012.
Scheinfeld NS. Medscape website. http://emedicine.medscape.com/article/1069442-overview. Updated January 19, 2016.
Westbroek W, Klar A, Cullinane AR, et al. Cellular and clinical report of new Griscelli syndrome type III cases. Pigment Cell Melanoma Res. 2012;25(1):47-56.
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