Griscelli syndrome

Griscelli syndrome is characterized by the light skin and silver-colored hair. This is a rare condition and only about 60 cases are reported globally. This genetic disorder is the result of the absence of or decreased color pigmentation of the skin, hair and eyes which may be evident at the birth of the infant. This can also result in the eye problem with decreased pigmentation of the iris. This syndrome is presented in infancy and early childhood, generally between the ages

of 4 months and 7 years old children. The other feature of this syndrome is the presence of clumps of pigmentation at the hairline. Griscelli syndrome may also be associated with immunological or neurological problems. This is inherited in an autosomal recessive pattern where both the parents each carry one copy of the mutated gene that is passed to their child. The parents do not necessarily illustrate any signs of the condition.

Type 1 Griscelli syndrome

This type affects the brain function along with the skin and hair coloring. These individuals are prone to have developmental delays, seizures, weak muscle (hypotonia), vision problems and intellectual problems. This results in the defect of the gene MY05A. This syndrome is associated with neurological problems which are present at birth and may develop in infancy. Type 1 Griscelli syndrome is also known as Elejalde syndrome as many of the sign and symptoms are the same.

Type 2 Griscelli syndrome

This type is associated with the immunological abnormalities along with the skin and hair coloring. The affected individuals are at risk of developing recurrent infections. This is the result of the defective gene RAB27A causing haemophagocytic lymphohistiocytosis (HLH) which is a blood disorder resulting from the uncontrolled activation of T lymphocyte and macrophage. This could develop life-threatening complications due to the damage of organs and tissues of the body. The decreased count of blood cells causes complications such as anemia, bleeding problems and recurrent infections. However, the neurological problem associated with type 1 griscelli syndrome is absent here.

Type 3 Griscelli syndrome

This is the result of the mutation in the gene MY05A or MLPH. The type 3 griscelli syndrome is presented only with the light skin and hair coloring conditions. The neurological and immune system problems associated with the other types of this syndrome is absent in these cases.

Causes

The pigment producing cells are known as melanocytes that contain the pigment granules melanosomes. These pigment granules contain the melanin providing the color to the skin, hair and eyes. The melanosomes are present in the center of melanocytes but must be transported to the outer part of the cells and into other cells in order to provide the pigmentation. The genetic mutation affects the transportation of melanosomes thus trapping them in the center of the melanocytes preventing the normal pigmentation of the eyes, hair and skin.

Diagnosis and Treatment

Diagnosis of this syndrome may be considered when individuals are presented with silver hair accompanied with neurological and immune system disorder. This condition may be evident with infants four months to children four years of age. Microscopic hair analysis may indicate clumps of pigmentation. Genetic testing confirms the diagnosis of the griscelli syndrome with the presence of the mutated gene.

There is no cure for this syndrome except the treatment of the symptoms that may vary among individuals and to prevent complications. However, Griscelli syndrome has been treated successfully with the stem cell transplantation.

References

http://www.dermnetnz.org/topics/griscelli-syndrome/

https://ghr.nlm.nih.gov/condition/griscelli-syndrome

http://www.ncbi.nlm.nih.gov/gtr/conditions/C1859194/